Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 5
Results: 12
Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1).
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- Human Mutation, 1997, v. 10, n. 5, p. 338, doi. 10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B
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Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value.
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- Human Mutation, 1997, v. 10, n. 5, p. 348, doi. 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B
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APC mutations in familial adenomatous polyposis families in the Northwest of England.
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- Human Mutation, 1997, v. 10, n. 5, p. 376, doi. 10.1002/(SICI)1098-1004(1997)10:5<376::AID-HUMU7>3.0.CO;2-D
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Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.
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- Human Mutation, 1997, v. 10, n. 5, p. 408, doi. 10.1002/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3
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Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.
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- Human Mutation, 1997, v. 10, n. 5, p. 393, doi. 10.1002/(SICI)1098-1004(1997)10:5<393::AID-HUMU10>3.0.CO;2-V
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SSCP analysis of long DNA fragments in low pH gel.
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- Human Mutation, 1997, v. 10, n. 5, p. 400, doi. 10.1002/(SICI)1098-1004(1997)10:5<400::AID-HUMU11>3.0.CO;2-3
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Imprinting mutations on human chromosome 15.
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- Human Mutation, 1997, v. 10, n. 5, p. 329, doi. 10.1002/(SICI)1098-1004(1997)10:5<329::AID-HUMU1>3.0.CO;2-A
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Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
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- Human Mutation, 1997, v. 10, n. 5, p. 361, doi. 10.1002/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I
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Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients.
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- Human Mutation, 1997, v. 10, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C
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Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
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- Human Mutation, 1997, v. 10, n. 5, p. 368, doi. 10.1002/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B
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Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the β-hexosaminidase α-chain gene in two Portuguese patients.
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- Human Mutation, 1997, v. 10, n. 5, p. 359, doi. 10.1002/(SICI)1098-1004(1997)10:5<359::AID-HUMU4>3.0.CO;2-A
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Analysis of multiple mitochondrial DNA deletions in inclusion body myositis.
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- Human Mutation, 1997, v. 10, n. 5, p. 381, doi. 10.1002/(SICI)1098-1004(1997)10:5<381::AID-HUMU8>3.0.CO;2-I
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