Found: 12
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PAX6 mutations reviewed.
- Published in:
- Human Mutation, 1998, v. 11, n. 2, p. 93, doi. 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M
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- Article
Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.
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- Human Mutation, 1998, v. 11, n. 2, p. 109, doi. 10.1002/(SICI)1098-1004(1998)11:2<109::AID-HUMU2>3.0.CO;2-E
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- Article
Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours.
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- Human Mutation, 1998, v. 11, n. 2, p. 114, doi. 10.1002/(SICI)1098-1004(1998)11:2<114::AID-HUMU3>3.0.CO;2-J
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- Article
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
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- Human Mutation, 1998, v. 11, n. 2, p. 121, doi. 10.1002/(SICI)1098-1004(1998)11:2<121::AID-HUMU4>3.0.CO;2-M
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- Article
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy.
- Published in:
- Human Mutation, 1998, v. 11, n. 2, p. 127, doi. 10.1002/(SICI)1098-1004(1998)11:2<127::AID-HUMU5>3.0.CO;2-G
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- Article
Population genetic diversity in relation to microsatellite heterogeneity.
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- Human Mutation, 1998, v. 11, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1998)11:2<135::AID-HUMU6>3.0.CO;2-I
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- Article
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
- Published in:
- Human Mutation, 1998, v. 11, n. 2, p. 145, doi. 10.1002/(SICI)1098-1004(1998)11:2<145::AID-HUMU7>3.0.CO;2-I
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Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).
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- Human Mutation, 1998, v. 11, n. 2, p. 152, doi. 10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L
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- Article
Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
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- Human Mutation, 1998, v. 11, n. 2, p. 158, doi. 10.1002/(SICI)1098-1004(1998)11:2<158::AID-HUMU9>3.0.CO;2-F
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- Article
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
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- Human Mutation, 1998, v. 11, n. 2, p. 166, doi. 10.1002/(SICI)1098-1004(1998)11:2<166::AID-HUMU10>3.0.CO;2-X
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- Article
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.
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- Human Mutation, 1998, v. 11, n. 2, p. 175, doi. 10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W
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- Article
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
- Published in:
- Human Mutation, 1998, v. 11, n. 2, p. 179, doi. 10.1002/(SICI)1098-1004(1998)11:2<179::AID-HUMU12>3.0.CO;2-W
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- Article