A Limited Repertoire of Mutations of the Luteinizing Hormone (LH) Receptor Gene in Familial and Sporadic Patients with Male LH-Independent Precocious Puberty1
Herein, we report mutation analysis of the LH receptor gene in 17 males with LH-independent precocious puberty, of which 8 were familial and 9 had a negative family history. A total of 7 different mutations (all previously reported) were detected in 12 patients. Among 10 European familial male-limit...
Saved in:
| Published in | The journal of clinical endocrinology and metabolism Vol. 84; no. 3; pp. 1136 - 1140 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Endocrine Society
01.03.1999
|
| Online Access | Get full text |
Cover
Loading…
| Abstract | Herein, we report mutation analysis of the LH receptor gene in 17 males
with LH-independent precocious puberty, of which 8 were familial and 9
had a negative family history. A total of 7 different mutations (all
previously reported) were detected in 12 patients. Among 10 European
familial male-limited precocious puberty (FMPP) patients who had a LH
receptor gene mutation, none had the Asp578Gly mutation,
which is responsible for the vast majority of cases in the U.S. The
restricted number of activating mutations of the LH receptor observed
in this and other studies of FMPP strongly suggests that an activating
phenotype is associated with very specific sites in the receptor
protein. Clinical follow-up of the 5 patients who did not have LH
receptor mutations shows that such cases most likely do not have true
FMPP. LH receptor mutation analysis provides a sensitive tool for
distinguishing true FMPP from other causes of early-onset
LH-independent puberty in males. |
|---|---|
| AbstractList | Herein, we report mutation analysis of the LH receptor gene in 17 males
with LH-independent precocious puberty, of which 8 were familial and 9
had a negative family history. A total of 7 different mutations (all
previously reported) were detected in 12 patients. Among 10 European
familial male-limited precocious puberty (FMPP) patients who had a LH
receptor gene mutation, none had the Asp578Gly mutation,
which is responsible for the vast majority of cases in the U.S. The
restricted number of activating mutations of the LH receptor observed
in this and other studies of FMPP strongly suggests that an activating
phenotype is associated with very specific sites in the receptor
protein. Clinical follow-up of the 5 patients who did not have LH
receptor mutations shows that such cases most likely do not have true
FMPP. LH receptor mutation analysis provides a sensitive tool for
distinguishing true FMPP from other causes of early-onset
LH-independent puberty in males. Herein, we report mutation analysis of the LH receptor gene in 17 males with LH-independent precocious puberty, of which 8 were familial and 9 had a negative family history. A total of 7 different mutations (all previously reported) were detected in 12 patients. Among 10 European familial male-limited precocious puberty (FMPP) patients who had a LH receptor gene mutation, none had the Asp578Gly mutation, which is responsible for the vast majority of cases in the U.S. The restricted number of activating mutations of the LH receptor observed in this and other studies of FMPP strongly suggests that an activating phenotype is associated with very specific sites in the receptor protein. Clinical follow-up of the 5 patients who did not have LH receptor mutations shows that such cases most likely do not have true FMPP. LH receptor mutation analysis provides a sensitive tool for distinguishing true FMPP from other causes of early-onset LH-independent puberty in males. |
| Author | Potau, N van Reen, M Martens, J. W. M Brunner, H. G Moll, G. W Themmen, A. P. N Verhoef-Post, M Delemarre-van de Waal, H. A De Luca, F Wit, J. M Drop, S. L. S Jansen, M Kremer, H Buckler, J. M. H Otten, B. J Pombo-Arias, M Mariman, E. C. M Latif, H. A Parks, J. S Epping, W Saggese, G |
| Author_xml | – sequence: 1 givenname: H surname: Kremer fullname: Kremer, H – sequence: 2 givenname: J. W. M surname: Martens fullname: Martens, J. W. M – sequence: 3 givenname: M surname: van Reen fullname: van Reen, M – sequence: 4 givenname: M surname: Verhoef-Post fullname: Verhoef-Post, M – sequence: 5 givenname: J. M surname: Wit fullname: Wit, J. M – sequence: 6 givenname: B. J surname: Otten fullname: Otten, B. J – sequence: 7 givenname: S. L. S surname: Drop fullname: Drop, S. L. S – sequence: 8 givenname: H. A surname: Delemarre-van de Waal fullname: Delemarre-van de Waal, H. A – sequence: 9 givenname: M surname: Pombo-Arias fullname: Pombo-Arias, M – sequence: 10 givenname: F surname: De Luca fullname: De Luca, F – sequence: 11 givenname: N surname: Potau fullname: Potau, N – sequence: 12 givenname: J. M. H surname: Buckler fullname: Buckler, J. M. H – sequence: 13 givenname: M surname: Jansen fullname: Jansen, M – sequence: 14 givenname: J. S surname: Parks fullname: Parks, J. S – sequence: 15 givenname: H. A surname: Latif fullname: Latif, H. A – sequence: 16 givenname: G. W surname: Moll fullname: Moll, G. W – sequence: 17 givenname: W surname: Epping fullname: Epping, W – sequence: 18 givenname: G surname: Saggese fullname: Saggese, G – sequence: 19 givenname: E. C. M surname: Mariman fullname: Mariman, E. C. M – sequence: 20 givenname: A. P. N surname: Themmen fullname: Themmen, A. P. N – sequence: 21 givenname: H. G surname: Brunner fullname: Brunner, H. G |
| BookMark | eNp1UMtKxDAUDaLg-Ni6zlIXrUmTTNqliM4IHRx8gLuSprdOhmlSkhTRj_FbzaBbN_dyD5zHPSfo0DoLCF1QktOCkuuthiEvec5yIag4QDNacZFJWslDNCOkoFkli7djdBLClhDKuWAz9H2DazOYCB1-ghF8dMYDdj1eTVFF42zYH3EDuJ4iGGu-jH3HS-eHZI4v6-VV4mkYo_N4AQkyFt-rweyM2mFlO_w8Oq86o_E6yYGNAX-YuMErtUuSy-zBdsk2DRvx2oN22rgp4PXUpiyf9Awd9WoX4Pxvn6LX-7uX22VWPy4ebm_qTNNCiPRYxaoSeqbknM_7UgMtKZMFSNa1VPRCgZA64ZzRThJoteoInxetbGkFnLNTlP_qau9C8NA3ozeD8p8NJc2-3WbfblPyhjX7dhNB_BJSdqe9sTB6CKHZusnblPQ_3g8BsYPr |
| Cites_doi | 10.1093/hmg/4.2.183 10.1006/bmme.1996.0048 10.1038/ng0795-360 10.1093/nar/16.3.1215 10.1210/jcem-52-2-271 10.1210/jcem-57-3-571 10.1073/pnas.89.11.5152 10.1056/NEJM199112123252403 10.1210/jcem-22-11-1095 10.1038/371164a0 10.1016/S0022-3476(85)80460-1 10.1056/NEJM198501103120201 10.1073/pnas.92.6.1906 10.1038/365649a0 10.1136/jmg.35.4.340 10.1056/NEJM198408233110807 10.1006/bbrc.1996.0528 10.1002/(SICI)1098-1004(1996)7:2<164::AID-HUMU13>3.0.CO;2-0 10.1210/mend.12.6.0124 10.1210/jcem.83.2.4579 10.1038/365652a0 10.1136/jmg.33.2.143 10.1093/hmg/2.11.1779 10.1073/pnas.86.8.2766 10.1038/ng0295-160 10.1016/S0021-9258(17)34861-5 |
| ContentType | Journal Article |
| DBID | AAYXX CITATION |
| DOI | 10.1210/jcem.84.3.5515 |
| DatabaseName | CrossRef |
| DatabaseTitle | CrossRef |
| DatabaseTitleList | CrossRef |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1945-7197 |
| EndPage | 1140 |
| ExternalDocumentID | 10_1210_jcem_84_3_5515 |
| GroupedDBID | - 02 08R 0R 1TH 29K 2WC 34G 39C 3O- 3V. 4.4 48X 53G 55 5GY 5RS 5YH 7X7 88E 8F7 8FI 8FJ AABJS AABMN AAIMJ AAJQQ AAPQZ AAQQT AAUQX AAWTL AAYJJ ABFLS ABOCM ABPMR ABPPZ ABSAR ABUWG ACGFS ACIMA ACPRK ACUTJ ADBBV ADBIT ADEIU ADGZP ADHKW ADRTK AELNO AELWJ AEMDU AENEX AENZO AETBJ AEWNT AFCHL AFFNX AFKRA AFRAH AFXEN AGINJ AGKRT AGVJH AHMBA AIKOY AIMBJ ALMA_UNASSIGNED_HOLDINGS APIBT AQKUS ARIXL ASMCH ASPBG AVWKF AYOIW AZFZN AZQFJ BAWUL BAYMD BBAFP BCRHZ BENPR BEYMZ BGYMP BHONS BPHCQ BSWAC BTRTY BVXVI C45 CDBKE CS3 D-I DAKXR DIK DPPUQ E3Z EBS EIHJH EJD ENERS F5P FEDTE FH7 FHSFR FOTVD FQBLK FYUFA G8K GAUVT GJ GJXCC GX1 H1 H13 HVGLF HZ H~9 IAO IHR INH J5H KBUDW KOP KQ8 KSN L7B M1P M5 MBLQV MHKGH N9A NLBLG NOYVH NVLIB O0- O9- OBH OCB ODMLO OGEVE OK1 OVD P2P PQEST PQQKQ PQUKI PRINS PROAC PSQYO REU ROX ROZ TCN TJX TLC TMA TWZ VH1 WOQ X X52 X7M XZ ZA5 ZGI ZXP ZY1 --- -~X .55 .GJ .XZ 08P 0R~ 18M 354 AABZA AACZT AAPXW AARHZ AAUAY AAVAP AAYXX ABBLC ABJNI ABLJU ABMNT ABNHQ ABPQP ABPTD ABQNK ABWST ABXVV ACGFO ACYHN ADGKP ADQBN ADVEK AFFZL AFGWE AFOFC AFXAL AGQXC AGUTN AJEEA ATGXG CITATION EMOBN FECEO FLUFQ FOEOM HZ~ KSI M5~ MJL N4W NOMLY OAUYM OFXIZ OHH OJZSN OPAEJ OVIDX P6G TEORI TR2 VVN W8F YBU YFH YHG YOC YSK ~02 ~H1 |
| ID | FETCH-LOGICAL-c1255-979398ef3a7646f8ce181372e73db15f5ae57cf8c431d70ebcad0462b7b19e443 |
| ISSN | 0021-972X |
| IngestDate | Thu Sep 12 19:01:01 EDT 2024 Tue Jan 05 21:44:33 EST 2021 |
| IsDoiOpenAccess | false |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Language | English |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-c1255-979398ef3a7646f8ce181372e73db15f5ae57cf8c431d70ebcad0462b7b19e443 |
| OpenAccessLink | https://academic.oup.com/jcem/article-pdf/84/3/1136/10416509/jcem1136.pdf |
| PageCount | 5 |
| ParticipantIDs | crossref_primary_10_1210_jcem_84_3_5515 endocrinepress_journals_10_1210_jcem_84_3_5515 |
| PublicationCentury | 1900 |
| PublicationDate | 1999-03 1999-03-01 |
| PublicationDateYYYYMMDD | 1999-03-01 |
| PublicationDate_xml | – month: 03 year: 1999 text: 1999-03 |
| PublicationDecade | 1990 |
| PublicationTitle | The journal of clinical endocrinology and metabolism |
| PublicationYear | 1999 |
| Publisher | Endocrine Society |
| Publisher_xml | – name: Endocrine Society |
| References | Yano (2020071618510280300_R20) 1996; 22 Parma (2020071618510280300_R24) 1993; 365 Martens (2020071618510280300_R16) 1998; 12 Müller (2020071618510280300_R23) 1998; 35 Orita (2020071618510280300_R14) 1989; 86 Porcellini (2020071618510280300_R27) 1994; 79 Reiter (2020071618510280300_R6) 1984; 311 Yano (2020071618510280300_R22) 1994; 79 Egli (2020071618510280300_R3) 1985; 106 Weinstein (2020071618510280300_R29) 1991; 325 Latronico (2020071618510280300_R33) 1995; 80 Kremer (2020071618510280300_R7) 1993; 2 Shenker (2020071618510280300_R8) 1993; 365 Gromoll (2020071618510280300_R11) 1998; 83 Schwindinger (2020071618510280300_R30) 1992; 89 Evans (2020071618510280300_R19) 1996; 33 Dufau (2020071618510280300_R18) 1978; 253 Wierman (2020071618510280300_R5) 1985; 312 Fuchs (2020071618510280300_R32) 1995; 10 Parma (2020071618510280300_R25) 1995; 9 Russo (2020071618510280300_R28) 1995; 80 Miller (2020071618510280300_R13) 1988; 16 Liri (2020071618510280300_R31) 1994; 371 Yano (2020071618510280300_R34) 1995; 80 Laue (2020071618510280300_R17) 1996; 58 Laue (2020071618510280300_R9) 1995; 92 Rosenthal (2020071618510280300_R4) 1983; 57 Paschke (2020071618510280300_R26) 1994; 79 Kosugi (2020071618510280300_R10) 1995; 4 2020071618510280300_R21 Schedewie (2020071618510280300_R1) 1981; 52 Kraaij (2020071618510280300_R12) 1995; 80 (2020071618510280300_R36) 1995; 32 Beas (2020071618510280300_R2) 1962; 22 Kremer (2020071618510280300_R15) 1995; 9 Cocco (2020071618510280300_R35) 1996; 7 |
| References_xml | – volume: 80 start-page: 1347 year: 1995 ident: 2020071618510280300_R28 article-title: Genetic alterations in thyroid hyperfunctioning adenomas. publication-title: J Clin Endocrinol Metab contributor: fullname: Russo – volume: 4 start-page: 183 year: 1995 ident: 2020071618510280300_R10 article-title: Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. publication-title: Hum Mol Genet doi: 10.1093/hmg/4.2.183 contributor: fullname: Kosugi – volume: 58 start-page: 192 year: 1996 ident: 2020071618510280300_R17 article-title: Heterogeneity of activating mutations of the luteinizing hormone receptor in male-limited precocious puberty. publication-title: Biochem Mol Med doi: 10.1006/bmme.1996.0048 contributor: fullname: Laue – volume: 9 start-page: 725 year: 1995 ident: 2020071618510280300_R25 article-title: Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3′5′-monophosphate and inositol phosphate-Ca2+ cascades. publication-title: Mol Endocrinol contributor: fullname: Parma – volume: 10 start-page: 360 year: 1995 ident: 2020071618510280300_R32 article-title: A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. publication-title: Nat Genet doi: 10.1038/ng0795-360 contributor: fullname: Fuchs – volume: 16 start-page: 1215 year: 1988 ident: 2020071618510280300_R13 article-title: A simple salting out procedure for extracting DNA from human nucleated cells. publication-title: Nucleic Acids Res doi: 10.1093/nar/16.3.1215 contributor: fullname: Miller – volume: 52 start-page: 271 year: 1981 ident: 2020071618510280300_R1 article-title: Testicular Leydig cell hyperplasia as a cause of familial sexual precocity. publication-title: J Clin Endocrinol Metab doi: 10.1210/jcem-52-2-271 contributor: fullname: Schedewie – volume: 57 start-page: 571 year: 1983 ident: 2020071618510280300_R4 article-title: Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteininzing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. publication-title: J Clin Endocrinol Metab doi: 10.1210/jcem-57-3-571 contributor: fullname: Rosenthal – volume: 79 start-page: 657 year: 1994 ident: 2020071618510280300_R27 article-title: Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. publication-title: J Clin Endocrinol Metab contributor: fullname: Porcellini – volume: 89 start-page: 5152 year: 1992 ident: 2020071618510280300_R30 article-title: Identification of a mutation in the gene encoding the α subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.89.11.5152 contributor: fullname: Schwindinger – volume: 325 start-page: 1688 year: 1991 ident: 2020071618510280300_R29 article-title: Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. publication-title: N Engl J Med doi: 10.1056/NEJM199112123252403 contributor: fullname: Weinstein – volume: 80 start-page: 1162 year: 1995 ident: 2020071618510280300_R34 article-title: A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. publication-title: J Clin Endocrinol Metab contributor: fullname: Yano – volume: 22 start-page: 1095 year: 1962 ident: 2020071618510280300_R2 article-title: Familial male sexual precocity: report of the eleventh kindred found, with observations on blood group linkage and urinary C19-steroid excretion. publication-title: J Clin Endocrinol doi: 10.1210/jcem-22-11-1095 contributor: fullname: Beas – volume: 80 start-page: 3168 year: 1995 ident: 2020071618510280300_R12 article-title: A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. publication-title: J Clin Endocrinol Metab contributor: fullname: Kraaij – volume: 79 start-page: 1818 year: 1994 ident: 2020071618510280300_R22 article-title: A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. publication-title: J Clin Endocrinol Metab contributor: fullname: Yano – volume: 371 start-page: 164 year: 1994 ident: 2020071618510280300_R31 article-title: Rapid GDP release from Gsα in patients with gain and loss of endocrine function. publication-title: Nature doi: 10.1038/371164a0 contributor: fullname: Liri – volume: 32 start-page: 553 year: 1995 ident: 2020071618510280300_R36 publication-title: Identification of constitutively activating mutation of the luteinizing hormone receptor in a family with male-limited precocious puberty (testotoxicosis) J Med Genet – volume: 106 start-page: 33 year: 1985 ident: 2020071618510280300_R3 article-title: Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. publication-title: J Pediatr doi: 10.1016/S0022-3476(85)80460-1 contributor: fullname: Egli – volume: 312 start-page: 65 year: 1985 ident: 2020071618510280300_R5 article-title: Puberty without gonadotropins. A unique mechanism of sexual development. publication-title: N Engl J Med doi: 10.1056/NEJM198501103120201 contributor: fullname: Wierman – volume: 92 start-page: 1906 year: 1995 ident: 2020071618510280300_R9 article-title: Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.92.6.1906 contributor: fullname: Laue – volume: 365 start-page: 649 year: 1993 ident: 2020071618510280300_R24 article-title: Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. publication-title: Nature doi: 10.1038/365649a0 contributor: fullname: Parma – volume: 35 start-page: 340 year: 1998 ident: 2020071618510280300_R23 article-title: Severe testotoxicosis phenotype associated with a mutation Asp578→Tyr of the lutropin/choriogonadotropin receptor gene. publication-title: J Med Genet doi: 10.1136/jmg.35.4.340 contributor: fullname: Müller – volume: 80 start-page: 2490 year: 1995 ident: 2020071618510280300_R33 article-title: A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. publication-title: J Clin Endocrinol Metab contributor: fullname: Latronico – volume: 311 start-page: 515 year: 1984 ident: 2020071618510280300_R6 article-title: Male-limited familial precocious puberty in three generations. publication-title: N Engl J Med doi: 10.1056/NEJM198408233110807 contributor: fullname: Reiter – volume: 22 start-page: 1036 year: 1996 ident: 2020071618510280300_R20 article-title: A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene. publication-title: Biochem Biophys Res Commun doi: 10.1006/bbrc.1996.0528 contributor: fullname: Yano – ident: 2020071618510280300_R21 – volume: 7 start-page: 164 year: 1996 ident: 2020071618510280300_R35 article-title: A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty. publication-title: Hum Mutation doi: 10.1002/(SICI)1098-1004(1996)7:2<164::AID-HUMU13>3.0.CO;2-0 contributor: fullname: Cocco – volume: 79 start-page: 1785 year: 1994 ident: 2020071618510280300_R26 article-title: Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. publication-title: J Clin Endocrinol Metab contributor: fullname: Paschke – volume: 12 start-page: 775 year: 1998 ident: 2020071618510280300_R16 article-title: A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. publication-title: Mol Endocrinol doi: 10.1210/mend.12.6.0124 contributor: fullname: Martens – volume: 83 start-page: 476 year: 1998 ident: 2020071618510280300_R11 article-title: A mutation in the firsty transmembrane domain of the lutropin receptor causes male precocious puberty. publication-title: J Clin Endocrinol Metab doi: 10.1210/jcem.83.2.4579 contributor: fullname: Gromoll – volume: 365 start-page: 652 year: 1993 ident: 2020071618510280300_R8 article-title: A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. publication-title: Nature doi: 10.1038/365652a0 contributor: fullname: Shenker – volume: 33 start-page: 143 year: 1996 ident: 2020071618510280300_R19 article-title: A new point mutation in the luteinizing hormone receptor gene in familial and sporadic male limited precocious puberty does not always correlate with phenotype. publication-title: J Med Genet doi: 10.1136/jmg.33.2.143 contributor: fullname: Evans – volume: 2 start-page: 1779 year: 1993 ident: 2020071618510280300_R7 article-title: Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. publication-title: Hum Mol Genet doi: 10.1093/hmg/2.11.1779 contributor: fullname: Kremer – volume: 86 start-page: 2766 year: 1989 ident: 2020071618510280300_R14 article-title: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphism. publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.86.8.2766 contributor: fullname: Orita – volume: 9 start-page: 160 year: 1995 ident: 2020071618510280300_R15 article-title: Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. publication-title: Nat Genet doi: 10.1038/ng0295-160 contributor: fullname: Kremer – volume: 253 start-page: 3721 year: 1978 ident: 2020071618510280300_R18 article-title: Actions of choleragen and gonadotropin in isolated Leydig cells. Functional compartmentalization of the hormone-activated cyclic AMP response. publication-title: J Biol Chem doi: 10.1016/S0021-9258(17)34861-5 contributor: fullname: Dufau |
| SSID | ssj0014453 |
| Score | 1.6109116 |
| Snippet | Herein, we report mutation analysis of the LH receptor gene in 17 males
with LH-independent precocious puberty, of which 8 were familial and 9
had a negative... Herein, we report mutation analysis of the LH receptor gene in 17 males with LH-independent precocious puberty, of which 8 were familial and 9 had a negative... |
| SourceID | crossref endocrinepress |
| SourceType | Aggregation Database Publisher |
| StartPage | 1136 |
| Title | A Limited Repertoire of Mutations of the Luteinizing Hormone (LH) Receptor Gene in Familial and Sporadic Patients with Male LH-Independent Precocious Puberty1 |
| URI | http://dx.doi.org/10.1210/jcem.84.3.5515 |
| Volume | 84 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lj9MwELbKIiEOIJ5ieWkOSIBWiZraaZJjhRbCqkUcdqG3KHYcbSW2WXUTDvtj-IP8CWZiOw-pSCwXq7Xstsl8GX8znQdjb5JZLkstcy8ucRBKSQ9NMOlxOZ-KoEx43BYwXX2Zp2fiZB2uJ5Pfg6ilppa-ut6bV_I_UsU5lCtlyd5Ast2H4gS-RvniiBLG8Z9kvHD5ScSj9a6uUH-1MS1N3Ue4EbNcNtTUcnNNfoEUWWplqOUyJacAMkd9iaZ3W4Ka_B9tM4yNLSJAbdDzggLoTQVWmw63woPlaJl6n7s2ujWFcyjKf2muyLtFRXuDIfclRA4KVXQ5mbi7Qt217atBXegasfnDVTek84DcmLtRMgUVQNDGCjjxj777vV_3Z_u3hNGn3eQ3vTuvdOl9tVkuq97fYWok8KG_49j-Ju3CWofancJNorY9O55tRqEnIvSiwMQAO41vmtJZZPOB-qYGNwMqgLbidO8xg3YyHTNKX_ix8LmPtDPsD9QuzJEMLFya0cIsFhnPaOEtdnuGWpHU8ad1F4-Ehq0tmWovwlYYpRSr8ReNGNQ9JyMTNz3gRqcP2H1r1MDCIPQhm-jtI3ZnZcM2HrNfC7BAhR6oUJXQAZXeIFBhAFSwQIV3y_Q9OJACgRQ2W3AgBQQMOJCCAykQSIFACmOQQg9ScCB9ws4-Hp9-SD3bGMRTyMdDvD0JT2Jd8jyai3kZK408lUczHfFCBmEZ5jqMFM4jOy6iKcX7FZSELSMZJFoI_pQdbPECnjGQSGF1nnOFlroIi5D4bqSSWaDzaR4k8SF76252dmnqv2T7xXrI_LEsMvtIXf1lw_ObbnjB7vYPxEt2UO8a_QopcS1ft1D6AyvgvGo |
| link.rule.ids | 315,783,787,27936,27937 |
| linkProvider | Geneva Foundation for Medical Education and Research |
| 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=A+Limited+Repertoire+of+Mutations+of+the+Luteinizing+Hormone+%28LH%29+Receptor+Gene+in+Familial+and+Sporadic+Patients+with+Male+LH-Independent+Precocious+Puberty1&rft.jtitle=The+journal+of+clinical+endocrinology+and+metabolism&rft.au=Kremer%2C+H&rft.au=Martens%2C+J.+W.+M&rft.au=van+Reen%2C+M&rft.au=Verhoef-Post%2C+M&rft.date=1999-03-01&rft.pub=Endocrine+Society&rft.issn=0021-972X&rft.eissn=1945-7197&rft.volume=84&rft.issue=3&rft.spage=1136&rft.epage=1140&rft_id=info:doi/10.1210%2Fjcem.84.3.5515&rft.externalDocID=10_1210_jcem_84_3_5515 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0021-972X&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0021-972X&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0021-972X&client=summon |