First trimester diagnosis of primary hyperoxaluria type I
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| Published in | The Lancet (British edition) Vol. 344; no. 8928; p. 1018 |
|---|---|
| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier Ltd
08.10.1994
Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
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| Author | Kirk, J.M. Rumsby, G. Uttley, W.S. |
|---|---|
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/7934395$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1002/pd.1970090406 10.1016/0888-7543(91)90481-S 10.1007/BF00197154 10.1007/BF02272842 10.1093/hmg/1.5.350-a |
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| References | Danpure, Jennings, Penketh (BIB2) 1989; 9 Purdue, Lumb, Allsop, Danpure (BIB5) 1991; 87 Rumsby, Jones, Danpure, Samuell (BIB3) 1992; 1 Danpure, Birdsey, Rumsby (BIB4) 1994; 94 Purdue, Lumb, Fox (BIB1) 1991; 10 Purdue (10.1016/S0140-6736(94)91675-6_BIB1) 1991; 10 Danpure (10.1016/S0140-6736(94)91675-6_BIB4) 1994; 94 Rumsby (10.1016/S0140-6736(94)91675-6_BIB3) 1992; 1 Danpure (10.1016/S0140-6736(94)91675-6_BIB2) 1989; 9 Purdue (10.1016/S0140-6736(94)91675-6_BIB5) 1991; 87 |
| References_xml | – volume: 10 start-page: 34 year: 1991 end-page: 42 ident: BIB1 article-title: Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase publication-title: Genomics contributor: fullname: Fox – volume: 9 start-page: 271 year: 1989 end-page: 281 ident: BIB2 article-title: Fetal liver alanine:glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1 publication-title: Prenat Diagn contributor: fullname: Penketh – volume: 87 start-page: 394 year: 1991 end-page: 396 ident: BIB5 article-title: An intronic duplication in the alanine:glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1 publication-title: Hum Genet contributor: fullname: Danpure – volume: 1 start-page: 3503 year: 1992 ident: BIB3 article-title: TaqI polymorphism at the alanine:glyoxylate aminotransferase (AGXT) gene locus publication-title: Hum Mol Genet contributor: fullname: Samuell – volume: 94 start-page: 55 year: 1994 end-page: 64 ident: BIB4 article-title: Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene publication-title: Hum Genet contributor: fullname: Rumsby – volume: 9 start-page: 271 year: 1989 ident: 10.1016/S0140-6736(94)91675-6_BIB2 article-title: Fetal liver alanine:glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1 publication-title: Prenat Diagn doi: 10.1002/pd.1970090406 contributor: fullname: Danpure – volume: 10 start-page: 34 year: 1991 ident: 10.1016/S0140-6736(94)91675-6_BIB1 article-title: Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase publication-title: Genomics doi: 10.1016/0888-7543(91)90481-S contributor: fullname: Purdue – volume: 87 start-page: 394 year: 1991 ident: 10.1016/S0140-6736(94)91675-6_BIB5 article-title: An intronic duplication in the alanine:glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1 publication-title: Hum Genet doi: 10.1007/BF00197154 contributor: fullname: Purdue – volume: 94 start-page: 55 year: 1994 ident: 10.1016/S0140-6736(94)91675-6_BIB4 article-title: Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene publication-title: Hum Genet doi: 10.1007/BF02272842 contributor: fullname: Danpure – volume: 1 start-page: 3503 year: 1992 ident: 10.1016/S0140-6736(94)91675-6_BIB3 article-title: TaqI polymorphism at the alanine:glyoxylate aminotransferase (AGXT) gene locus publication-title: Hum Mol Genet doi: 10.1093/hmg/1.5.350-a contributor: fullname: Rumsby |
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| SubjectTerms | Blotting, Southern Chorionic Villi Sampling Chromosomes, Human, Pair 2 Female Fetal Diseases - diagnosis Humans Hyperoxaluria, Primary - diagnosis Hyperoxaluria, Primary - genetics Pedigree Polymorphism, Genetic Pregnancy Pregnancy Trimester, First Prenatal Diagnosis |
| Title | First trimester diagnosis of primary hyperoxaluria type I |
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