The mutational spectrum of human malignant autosomal recessive osteopetrosis
Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogeneous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently identified mutations in the ATP6i (TCIRG1) gene, encoding the a3 subunit of...
Saved in:
Published in | Human molecular genetics Vol. 10; no. 17; pp. 1767 - 1773 |
---|---|
Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Oxford
Oxford University Press
15.08.2001
|
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogeneous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently identified mutations in the ATP6i (TCIRG1) gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, are responsible for a subset of this condition. By sequencing the ATP6i gene in arOP patients from 44 unrelated families with a worldwide distribution we have now established that ATP6i mutations are responsible for approximately 50% of patients affected by this disease. The vast majority of these mutations (40 out of 42 alleles, including seven deletions, two insertions, 10 nonsense substitutions and 21 mutations in splice sites) are predicted to cause severe abnormalities in the protein product and are likely to represent null alleles. In addition, we have also analysed nine unrelated arOP patients from Costa Rica, where this disease is apparently much more frequent than elsewhere. All nine Costa Rican patients bore either or both of two missense mutations (G405R and R444L) in amino acid residues which are evolutionarily conserved from yeast to humans. The identification of ATP6i gene mutations in two families allowed us for the first time to perform prenatal diagnosis: both fetuses were predicted not to be affected and two healthy babies were born. This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition. |
---|---|
AbstractList | Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogenous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently identified mutations in the ATP6i (TCIRG1) gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, are responsible for a subset of this condition. By sequencing the ATP6i gene in arOP patients from 44 unrelated families with a worldwide distribution we have now established that ATP6i mutations are responsible for similar to 50% of patients affected by this disease. The vast majority of these mutations (40 out of 42 alleles, including seven deletions, two insertions, 10 nonsense substitutions and 21 mutations in splice sites) are predicted to cause severe abnormalities in the protein product and are likely to represent null alleles. In addition, we have also analysed nine unrelated arOP patients from Costa Rica, where this disease is apparently much more frequent than elsewhere. All nine Costa Rican patients bore either or both of two missense mutations (G405R and R444L) in amino acid residues which are evolutionarily conserved from yeast to humans. The identification of ATP6i gene mutations in two families allowed us for the first time to perform prenatal diagnosis: both fetuses were predicted not to be affected and two healthy babies were born. This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition. Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogeneous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently identified mutations in the ATP6i (TCIRG1) gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, are responsible for a subset of this condition. By sequencing the ATP6i gene in arOP patients from 44 unrelated families with a worldwide distribution we have now established that ATP6i mutations are responsible for approximately 50% of patients affected by this disease. The vast majority of these mutations (40 out of 42 alleles, including seven deletions, two insertions, 10 nonsense substitutions and 21 mutations in splice sites) are predicted to cause severe abnormalities in the protein product and are likely to represent null alleles. In addition, we have also analysed nine unrelated arOP patients from Costa Rica, where this disease is apparently much more frequent than elsewhere. All nine Costa Rican patients bore either or both of two missense mutations (G405R and R444L) in amino acid residues which are evolutionarily conserved from yeast to humans. The identification of ATP6i gene mutations in two families allowed us for the first time to perform prenatal diagnosis: both fetuses were predicted not to be affected and two healthy babies were born. This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition. |
Author | HORWITZ, Edwin LANINO, Edoardo BARIC, Ivo VALIAHO, Jouni TEZCAN, Ilhan ELLIS, Ian VUJIC, Dragana KLAMROTH, Verena FISHER, Alain NONOMAYA, Shigeaki NOTARANGELO, Luigi D ANDOLINA, Marino BABUL-HIRJI, Riyana ETZIONI, Amos VEZZONI, Paolo MATTHIJS, Gert PORRAS, Oscar GERRITSEN, Bert CHITAYAT, David VAN HOVE, Johan L. K OCHS, Hans D MIROLO, Massimiliano SOBACCHI, Cristina DUPUIS-GIROD, Sophie GULINO, Virginia ORCHARD, Paul VIHINEN, Mauno FRATTINI, Annalisa CANHAM, Natalie MUSIO, Antonio VILLA, Anna FASTH, Anders SUPERTI FURGA, Andrea |
Author_xml | – sequence: 1 givenname: Cristina surname: SOBACCHI fullname: SOBACCHI, Cristina organization: Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, via Fratelli Cervi 93, 20090 Segrate (MI), Italy – sequence: 2 givenname: Annalisa surname: FRATTINI fullname: FRATTINI, Annalisa organization: Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, via Fratelli Cervi 93, 20090 Segrate (MI), Italy – sequence: 3 givenname: Sophie surname: DUPUIS-GIROD fullname: DUPUIS-GIROD, Sophie organization: Unité d'Immunologie et d'Hématologie Pédiatriques, Hopital Necker-Enfant Malades, Paris, France – sequence: 4 givenname: Ian surname: ELLIS fullname: ELLIS, Ian organization: Alder Hey Children's Hospital, Liverpool, United Kingdom – sequence: 5 givenname: Amos surname: ETZIONI fullname: ETZIONI, Amos organization: Division of Pediatrics, Rambam Medical Centre, Haifa, Israel – sequence: 6 givenname: Anders surname: FASTH fullname: FASTH, Anders organization: Department of Pediatrics, University of Göteborg, The Queen Silvia Children's Hospital, 41685 Göteborg, Sweden – sequence: 7 givenname: Alain surname: FISHER fullname: FISHER, Alain organization: Unité d'Immunologie et d'Hématologie Pédiatriques, Hopital Necker-Enfant Malades, Paris, France – sequence: 8 givenname: Bert surname: GERRITSEN fullname: GERRITSEN, Bert organization: Department of Pediatrics, Medical Center Rijnmond-Zuid, Olympiaweg 350, 3078 HT, Rotterdam, Netherlands – sequence: 9 givenname: Virginia surname: GULINO fullname: GULINO, Virginia organization: Istituto di Medicina Molecolare 'Angelo Nocivelli', Clinica Pediatrica, Universita' di Brescia, Italy – sequence: 10 givenname: Edwin surname: HORWITZ fullname: HORWITZ, Edwin organization: St Jude Children's Research Hospital, Memphis, TN, United States – sequence: 11 givenname: Verena surname: KLAMROTH fullname: KLAMROTH, Verena organization: Institut für Humangenetik, Westfaelische Wilhelms-Universitaet, Muenster, Germany – sequence: 12 givenname: Edoardo surname: LANINO fullname: LANINO, Edoardo organization: Department of Pediatric Hematology and Oncology, BMT Unit, IRCCS G. Gaslini, Genova, Italy – sequence: 13 givenname: Paul surname: ORCHARD fullname: ORCHARD, Paul organization: Department of Pediatrics, Division of Bone Marrow Transplantation, University of Minnesota, Minneapolis, MN, United States – sequence: 14 givenname: Massimiliano surname: MIROLO fullname: MIROLO, Massimiliano organization: Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, via Fratelli Cervi 93, 20090 Segrate (MI), Italy – sequence: 15 givenname: Antonio surname: MUSIO fullname: MUSIO, Antonio organization: Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, via Fratelli Cervi 93, 20090 Segrate (MI), Italy – sequence: 16 givenname: Gert surname: MATTHIJS fullname: MATTHIJS, Gert organization: Center for Human Genetics, University of Leuven, Leuven, Belgium – sequence: 17 givenname: Shigeaki surname: NONOMAYA fullname: NONOMAYA, Shigeaki organization: Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo 113-8519, Japan – sequence: 18 givenname: Luigi D surname: NOTARANGELO fullname: NOTARANGELO, Luigi D organization: Istituto di Medicina Molecolare 'Angelo Nocivelli', Clinica Pediatrica, Universita' di Brescia, Italy – sequence: 19 givenname: Hans D surname: OCHS fullname: OCHS, Hans D organization: University of Washington School of Medicine, Division of Immunology, Infectious Diseases and Rheumatology, Department of Pediatrics, Box 356320, University of Washington School of Medicine, Seattle, WA 98195-6320, United States – sequence: 20 givenname: Andrea surname: SUPERTI FURGA fullname: SUPERTI FURGA, Andrea organization: Division of Metabolism and Molecular Pediatrics, University Children's Hospital, 8032 Zurich, Switzerland – sequence: 21 givenname: Jouni surname: VALIAHO fullname: VALIAHO, Jouni organization: Institute of Medical Technology, University of Tampere, 33014, Finland – sequence: 22 givenname: Johan L. K surname: VAN HOVE fullname: VAN HOVE, Johan L. K organization: Department of Pediatrics, University Hospital Gasthuisberg, Catholic University of Leuven, Leuven, Belgium – sequence: 23 givenname: Mauno surname: VIHINEN fullname: VIHINEN, Mauno organization: Institute of Medical Technology, University of Tampere, 33014, Finland – sequence: 24 givenname: Oscar surname: PORRAS fullname: PORRAS, Oscar organization: Department of Immunology, National Children's Hospital, San José, Costa Rica – sequence: 25 givenname: Dragana surname: VUJIC fullname: VUJIC, Dragana organization: Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, via Fratelli Cervi 93, 20090 Segrate (MI), Italy – sequence: 26 givenname: Paolo surname: VEZZONI fullname: VEZZONI, Paolo organization: Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, via Fratelli Cervi 93, 20090 Segrate (MI), Italy – sequence: 27 givenname: Anna surname: VILLA fullname: VILLA, Anna organization: Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, via Fratelli Cervi 93, 20090 Segrate (MI), Italy – sequence: 28 givenname: Ilhan surname: TEZCAN fullname: TEZCAN, Ilhan organization: Hacettepe University Children's Hospital, Ankara, Turkey – sequence: 29 givenname: Marino surname: ANDOLINA fullname: ANDOLINA, Marino organization: Istituto per l'Infanzia, Trieste, Italy – sequence: 30 givenname: Riyana surname: BABUL-HIRJI fullname: BABUL-HIRJI, Riyana organization: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada – sequence: 31 givenname: Ivo surname: BARIC fullname: BARIC, Ivo organization: Department of Pediatrics, University Hospital Center, Zagreb, Croatia – sequence: 32 givenname: Natalie surname: CANHAM fullname: CANHAM, Natalie organization: Clinical Genetic Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom – sequence: 33 givenname: David surname: CHITAYAT fullname: CHITAYAT, David organization: The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada |
BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14159420$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/11532986$$D View this record in MEDLINE/PubMed |
BookMark | eNqFkMtLw0AQhxep2IdePUoueku7m33mKMUXFLzUc9hsJm0kydbdjeB_79YGehQG5jfwzcB8czTpbQ8I3RK8JDinq323Wx2zjCXkBZoRJnCaYUUnaIZzwVKRYzFFc-8_MSaCUXmFpoRwmuVKzNBmu4ekG4IOje11m_gDmOCGLrF1sh863Sedbptdr_uQ6CFYb-OcODDgffMNifUB7AGCs77x1-iy1q2Hm7Ev0Mfz03b9mm7eX97Wj5vUMK5CynkmM1xBJjillHFclpoapRgva60zyaUqIRJSkbysKaZCYm4qkCVnUlUZXaCH092Ds18D-FB0jTfQtroHO_hCEkJzFh38BxJFlBK5iODyBJr4iHdQFwfXdNr9FAQXR9FFFP2XZXEUHRfuxstD2UF1xkezEbgfAe2Nbmune9P4M8cIz1mG6S9wNIgJ |
CitedBy_id | crossref_primary_10_1038_ng2076 crossref_primary_10_1016_j_bbrc_2005_03_065 crossref_primary_10_1002_ajmg_a_31368 crossref_primary_10_1247_csf_28_455 crossref_primary_10_1186_s12920_021_01117_4 crossref_primary_10_1179_136485910X12647085215697 crossref_primary_10_1359_JBMR_040403 crossref_primary_10_1111_j_1365_2141_2008_06983_x crossref_primary_10_1359_JBMR_040407 crossref_primary_10_1074_jbc_M601118200 crossref_primary_10_1002_jbmr_2203 crossref_primary_10_1016_j_omtm_2020_12_009 crossref_primary_10_1002_ajmg_10828 crossref_primary_10_1124_jpet_103_063370 crossref_primary_10_1097_00001433_200310000_00007 crossref_primary_10_1016_j_ejmg_2012_10_010 crossref_primary_10_1038_nm_1963 crossref_primary_10_3390_genes14040900 crossref_primary_10_1210_jc_2006_1986 crossref_primary_10_1002_ajmg_a_32102 crossref_primary_10_1002_humu_20076 crossref_primary_10_1074_jbc_M605865200 crossref_primary_10_1016_j_archoralbio_2004_11_016 crossref_primary_10_1359_jbmr_2003_18_4_624 crossref_primary_10_1002_jcp_30814 crossref_primary_10_1016_j_gene_2013_04_069 crossref_primary_10_1016_S8756_3282_02_00844_X crossref_primary_10_1016_j_gene_2019_02_088 crossref_primary_10_1359_jbmr_2003_18_10_1740 crossref_primary_10_3389_fmolb_2022_879875 crossref_primary_10_1002_humu_10165 crossref_primary_10_1038_sj_jp_7211081 crossref_primary_10_1186_1750_1172_4_5 crossref_primary_10_1038_sj_bmt_1703416 crossref_primary_10_1359_jbmr_2003_18_8_1513 crossref_primary_10_1002_jcb_24434 crossref_primary_10_1002_pbc_20759 crossref_primary_10_1177_0300985810370164 crossref_primary_10_23868_201707034 crossref_primary_10_24287_1726_1708_2019_18_2_43_52 crossref_primary_10_1038_sj_leu_2403449 crossref_primary_10_1359_JBMR_050717 crossref_primary_10_1002_jemt_10375 crossref_primary_10_1016_j_arr_2016_05_004 crossref_primary_10_1138_20060240 crossref_primary_10_1007_s00223_010_9395_7 crossref_primary_10_1210_jcem_87_8_8740 crossref_primary_10_1002_humu_22563 crossref_primary_10_1002_mgg3_1815 crossref_primary_10_1002_ajh_21454 crossref_primary_10_1007_s11033_010_0004_7 crossref_primary_10_1016_j_bbabio_2004_04_013 crossref_primary_10_1038_s41598_017_02533_2 crossref_primary_10_1056_NEJMra040952 crossref_primary_10_1038_sj_bmt_1705485 crossref_primary_10_1002_jbmr_2100 crossref_primary_10_1177_154411130401500202 crossref_primary_10_1007_s12308_020_00399_4 crossref_primary_10_1016_j_bone_2022_116519 crossref_primary_10_1186_s12887_021_02774_1 crossref_primary_10_1371_journal_pone_0034132 crossref_primary_10_1210_clinem_dgae040 crossref_primary_10_1007_s00223_007_9098_x crossref_primary_10_1016_j_bone_2023_116897 crossref_primary_10_1074_jbc_M112_345702 crossref_primary_10_1007_s00774_010_0228_6 crossref_primary_10_1111_cge_12448 crossref_primary_10_1016_j_jbspin_2021_105301 crossref_primary_10_1016_j_matbio_2015_11_004 crossref_primary_10_1007_s00223_005_0027_6 crossref_primary_10_1074_jbc_M200434200 crossref_primary_10_1038_sj_bmt_1705533 crossref_primary_10_1002_ajh_21447 crossref_primary_10_1111_j_1399_3046_2012_01758_x crossref_primary_10_1038_nrendo_2013_137 crossref_primary_10_1155_2015_372156 crossref_primary_10_1097_SCS_0b013e3181c46df2 crossref_primary_10_1016_j_bone_2022_116505 crossref_primary_10_1016_j_jfo_2010_07_009 crossref_primary_10_1038_nm842 crossref_primary_10_1359_jbmr_080818 crossref_primary_10_1073_pnas_0507637102 crossref_primary_10_3390_ijms22136934 crossref_primary_10_1002_jbmr_2517 crossref_primary_10_1038_nm0609_610 crossref_primary_10_2492_inflammregen_32_222 crossref_primary_10_2183_pjab_82_416 crossref_primary_10_1051_medsci_200420161 crossref_primary_10_1359_jbmr_060403 crossref_primary_10_1007_s12098_013_1250_1 crossref_primary_10_1038_s41368_023_00235_2 crossref_primary_10_1016_j_bone_2022_116577 crossref_primary_10_1155_2021_7133508 crossref_primary_10_1016_j_rhum_2021_06_014 crossref_primary_10_1016_j_bbmt_2004_11_001 crossref_primary_10_1016_j_ejmg_2007_01_005 crossref_primary_10_1007_s11914_018_0415_2 crossref_primary_10_1002_jbmr_4801 crossref_primary_10_1016_j_exphem_2008_10_010 crossref_primary_10_1016_j_semcdb_2008_08_004 crossref_primary_10_1359_JBMR_040713 crossref_primary_10_1007_s10616_008_9165_9 crossref_primary_10_1016_j_bone_2017_01_012 crossref_primary_10_1002_jcb_25442 crossref_primary_10_1002_jcb_24630 crossref_primary_10_2106_JBJS_19_00558 crossref_primary_10_1148_rg_242035105 crossref_primary_10_1002_jbmr_355 crossref_primary_10_3389_fnmol_2023_1135015 crossref_primary_10_5385_nm_2021_28_3_133 crossref_primary_10_1038_aps_2017_108 crossref_primary_10_2139_ssrn_4132889 crossref_primary_10_1002_ajmg_a_35264 crossref_primary_10_1074_jbc_M114_569855 crossref_primary_10_1136_bmjophth_2018_000180 crossref_primary_10_1182_blood_2006_12_061382 crossref_primary_10_1007_s00198_011_1878_5 crossref_primary_10_1359_jbmr_2003_18_4_599 crossref_primary_10_4161_cc_21642 crossref_primary_10_1007_s11999_008_0256_x crossref_primary_10_1038_sj_bmt_1704194 crossref_primary_10_1152_physrev_00008_2012 crossref_primary_10_1038_bonekey_2016_69 crossref_primary_10_1007_s00223_008_9196_4 crossref_primary_10_1038_gene_2009_48 crossref_primary_10_1002_jbmr_1849 crossref_primary_10_1016_j_exphem_2005_11_010 crossref_primary_10_1016_j_bone_2005_12_078 crossref_primary_10_1046_j_1365_2141_2003_04739_x crossref_primary_10_1046_j_1365_2990_2003_00474_x crossref_primary_10_3892_mmr_2014_1955 crossref_primary_10_1016_j_yexmp_2015_11_018 crossref_primary_10_1007_s00439_008_0583_8 crossref_primary_10_1002_jbmr_2929 crossref_primary_10_1016_j_molcel_2018_02_006 crossref_primary_10_1038_ejhg_2008_234 crossref_primary_10_1186_s40035_020_00196_0 crossref_primary_10_1002_med_21782 crossref_primary_10_1016_j_bbrc_2007_04_082 crossref_primary_10_1111_j_1740_8261_2004_04036_x crossref_primary_10_1128_EC_00050_14 crossref_primary_10_1016_j_abb_2008_03_029 crossref_primary_10_1186_s13287_020_01701_y crossref_primary_10_1111_j_1600_0722_2009_00690_x crossref_primary_10_1002_pbc_10455 crossref_primary_10_1146_annurev_pathmechdis_3_121806_151431 crossref_primary_10_1016_S0002_9440_10_63798_4 crossref_primary_10_1016_j_biocel_2012_05_014 crossref_primary_10_1007_s12288_023_01732_4 crossref_primary_10_1074_jbc_M805242200 crossref_primary_10_1097_00041552_200209000_00013 |
ContentType | Journal Article |
Copyright | 2002 INIST-CNRS |
Copyright_xml | – notice: 2002 INIST-CNRS |
DBID | IQODW CGR CUY CVF ECM EIF NPM AAYXX CITATION 7QP 8FD FR3 P64 RC3 7X8 |
DOI | 10.1093/hmg/10.17.1767 |
DatabaseName | Pascal-Francis Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Calcium & Calcified Tissue Abstracts Technology Research Database Engineering Research Database Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef Genetics Abstracts Engineering Research Database Technology Research Database Calcium & Calcified Tissue Abstracts Biotechnology and BioEngineering Abstracts MEDLINE - Academic |
DatabaseTitleList | Genetics Abstracts MEDLINE - Academic MEDLINE |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Medicine Biology |
EISSN | 1460-2083 |
EndPage | 1773 |
ExternalDocumentID | 10_1093_hmg_10_17_1767 11532986 14159420 |
Genre | Research Support, Non-U.S. Gov't Journal Article |
GroupedDBID | --- -DZ -E4 .2P .55 .GJ .I3 .XZ .ZR 0R~ 18M 1TH 29I 2WC 4.4 482 48X 53G 5GY 5RE 5VS 5WA 5WD 6.Y 70D AABJS AABMN AABZA AACZT AAESY AAIMJ AAIYJ AAJKP AAJQQ AAMDB AAMVS AANRK AAOGV AAPBV AAPGJ AAPNW AAPQZ AAPXW AAUGY AAUQX AAVAP AAVLN AAWDT AAYOK ABEFU ABEUO ABIXL ABKDP ABLJU ABNKS ABPTD ABQLI ABQTQ ABSAR ABSMQ ABTAH ABWST ABXZS ABZBJ ACFRR ACGFO ACGFS ACIMA ACPQN ACPRK ACUFI ACUTJ ACUTO ADBBV ADEIU ADEYI ADEZT ADFTL ADGKP ADGZP ADHKW ADHZD ADIPN ADJQC ADOCK ADORX ADQLU ADRIX ADRTK ADVEK ADYVW ADZTZ ADZXQ AEGPL AEGXH AEJOX AEKPW AEKSI AELWJ AEMDU AENEX AENZO AEPUE AETBJ AEWNT AFFNX AFFZL AFGWE AFIYH AFOFC AFXEN AFYAG AGINJ AGKEF AGKRT AGQXC AGSYK AHMBA AHXPO AIAGR AIJHB AIKOY AIMBJ AJEEA AKHUL AKWXX ALMA_UNASSIGNED_HOLDINGS ALUQC ALXQX ANFBD APIBT APJGH APWMN AQDSO AQKUS ARIXL ASAOO ASMCH ASPBG ATDFG ATTQO AVWKF AWCFO AXUDD AYOIW AZFZN AZQFJ BAWUL BAYMD BCRHZ BEYMZ BGYMP BHONS BQDIO BSWAC BTRTY BVRKM BYORX BZKNY C1A C45 CAG CASEJ CDBKE COF CS3 CXTWN CZ4 DAKXR DFGAJ DIK DILTD DPORF DPPUQ DU5 D~K EBS EE~ EIHJH EJD ELUNK EMOBN F5P F9B FEDTE FHSFR FLUFQ FOEOM FOTVD FQBLK GAUVT GJXCC GX1 H13 H5~ HAR HW0 HZ~ IH2 IOX IQODW J21 KAQDR KBUDW KC5 KOP KQ8 KSI KSN L7B M-Z M49 MBLQV MBTAY ML0 N9A NEJ NGC NLBLG NOMLY NOYVH NTWIH NU- NVLIB O0~ O9- OAWHX OBC OBFPC OBOKY OBS OCZFY ODMLO OEB OJQWA OK1 OPAEJ OVD OWPYF O~Y P2P PAFKI PB- PEELM PQQKQ Q1. Q5Y QBD R44 RD5 RIG RNI ROL ROX ROZ RUSNO RW1 RXO RZF RZO SJN TCN TEORI TJX TLC TMA TR2 W8F WOQ X7H X7M XSW YAYTL YKOAZ YXANX ZCG ZGI ZKX ZXP ZY4 ~91 AARHZ AAUAY ABJNI ABMNT ABNHQ ABXVV ADQBN ATGXG CGR CUY CVF ECM EIF HVGLF JXSIZ NPM OJZSN AAYXX ABEJV AHMMS CITATION 7QP 8FD FR3 P64 RC3 7X8 |
ID | FETCH-LOGICAL-c458t-552720de265333450bba3c8845bfaa27578be7207819bf3036705cde7b5478d23 |
ISSN | 0964-6906 1460-2083 |
IngestDate | Wed Dec 04 01:23:47 EST 2024 Wed Dec 04 03:38:55 EST 2024 Fri Dec 06 01:36:36 EST 2024 Wed Oct 16 00:50:27 EDT 2024 Sun Oct 22 16:05:56 EDT 2023 |
IsDoiOpenAccess | false |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 17 |
Language | English |
License | CC BY 4.0 |
LinkModel | OpenURL |
MergedId | FETCHMERGED-LOGICAL-c458t-552720de265333450bba3c8845bfaa27578be7207819bf3036705cde7b5478d23 |
Notes | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 |
OpenAccessLink | https://academic.oup.com/hmg/article-pdf/10/17/1767/9813514/101767.pdf |
PMID | 11532986 |
PQID | 18188696 |
PQPubID | 23462 |
PageCount | 7 |
ParticipantIDs | proquest_miscellaneous_71139408 proquest_miscellaneous_18188696 crossref_primary_10_1093_hmg_10_17_1767 pubmed_primary_11532986 pascalfrancis_primary_14159420 |
PublicationCentury | 2000 |
PublicationDate | 2001-08-15 |
PublicationDateYYYYMMDD | 2001-08-15 |
PublicationDate_xml | – month: 08 year: 2001 text: 2001-08-15 day: 15 |
PublicationDecade | 2000 |
PublicationPlace | Oxford |
PublicationPlace_xml | – name: Oxford – name: England |
PublicationTitle | Human molecular genetics |
PublicationTitleAlternate | Hum Mol Genet |
PublicationYear | 2001 |
Publisher | Oxford University Press |
Publisher_xml | – name: Oxford University Press |
SSID | ssj0016437 |
Score | 2.1896145 |
Snippet | Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogeneous autosomal recessive disorder of bone metabolism, which, if untreated,... Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogenous autosomal recessive disorder of bone metabolism, which, if untreated,... |
SourceID | proquest crossref pubmed pascalfrancis |
SourceType | Aggregation Database Index Database |
StartPage | 1767 |
SubjectTerms | Amino Acid Sequence Animals ATP6i gene Base Sequence Biological and medical sciences Cell Line Chloride Channels - genetics Chromosomes, Human, Pair 11 DNA Mutational Analysis Exons Female Fundamental and applied biological sciences. Psychology Genes, Recessive Haplotypes Humans Infant Infant, Newborn Introns Male Molecular and cellular biology Molecular Sequence Data Mutation Osteopetrosis - enzymology Osteopetrosis - genetics Polymerase Chain Reaction Sequence Homology, Amino Acid TCIRG1 gene Vacuolar Proton-Translocating ATPases - genetics Vacuoles - enzymology Vacuoles - genetics |
Title | The mutational spectrum of human malignant autosomal recessive osteopetrosis |
URI | https://www.ncbi.nlm.nih.gov/pubmed/11532986 https://search.proquest.com/docview/18188696 https://search.proquest.com/docview/71139408 |
Volume | 10 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1db9MwFLVgCISEJhgMymD4AYkHlC0fjp08om3VgG5FopX6FtmOM_aQZmrTB_j13GvnoxFMfLxEURRble-pfXzjew4hbxVsq4zyNeq2co8pY7zExLnHEl1oJkRcWO3Oi0t-PmefFvGiN7q01SW1OtI_fltX8j9RhWcQV6yS_YfIdp3CA7iH-MIVIgzXv45xuanbfJ6tmlxtSksAbXK-BJZ9hUdd3stNXa2r0sr4Y2UAHhjC-o4KWDMslNfrbZbqMvtl65yLNstY69jR768wCWht7YD7LOsY9ZCvrUNUnyCdWimmfFBI9qVarVwZ2XSQc7BJVFd12SYPOfNQ4ngwj_rbeBFbs2IgnOVGs8IGwrmX_DJ7O2Wrb-WVSycE4qhvuS2UfTnNxvPJJJudLWZ3yT3UQETbhNOPn7sPSPg90sosNj-00-uMjqH_4773AR95dCPX8NconKfJ7ZsOSz5mj8lus2ugHxwEnpA7ZrlH7jsf0e975MFFc0LiKZkAJmiPCdpiglYFtZigHSZohwnaYYIOMPGMzMdns5Nzr3HM8DSLk9pDOb3Qz03IgcVHLPaVkpFOEharQsoQvQuUgTcE8EBVIHsRfqxzIxTKuuVhtE92ltXSvCBUQqtUGKk4lkJKA_viIApC6Qdap1wEI_KuHbfsxgmjZO5AQ5TBCNt7keEIj8jhYFj714E8piz0R-RNO84ZTG74xUouTbVZZ0A_k4Sn_PY3RABbGOYnI_LcBajvHdbyME34yz-2PSAPe5C_IjsQFfMaqGatDi2ofgKRPYB0 |
link.rule.ids | 314,780,784,27924,27925 |
linkProvider | Flying Publisher |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=The+mutational+spectrum+of+human+malignant+autosomal+recessive+osteopetrosis&rft.jtitle=Human+molecular+genetics&rft.au=Sobacchi%2C+C&rft.au=Frattini%2C+A&rft.au=Orchard%2C+P&rft.au=Porras%2C+O&rft.date=2001-08-15&rft.issn=0964-6906&rft.volume=10&rft.issue=17&rft.spage=1767&rft.epage=1773&rft_id=info:doi/10.1093%2Fhmg%2F10.17.1767&rft.externalDBID=NO_FULL_TEXT |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0964-6906&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0964-6906&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0964-6906&client=summon |