Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 2
Results: 16
E380D: A novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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- Human Mutation, 1997, v. 9, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1997)9:2<181::AID-HUMU12>3.0.CO;2-Z
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Three novel germline mutations in the adenomatous polyposis coli gene.
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- Human Mutation, 1997, v. 9, n. 2, p. 191, doi. 10.1002/(SICI)1098-1004(1997)9:2<191::AID-HUMU16>3.0.CO;2-Y
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Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
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- Human Mutation, 1997, v. 9, n. 2, p. 131, doi. 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C
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Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
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- Human Mutation, 1997, v. 9, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1997)9:2<136::AID-HUMU6>3.0.CO;2-7
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Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
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- Human Mutation, 1997, v. 9, n. 2, p. 177, doi. 10.1002/(SICI)1098-1004(1997)9:2<177::AID-HUMU11>3.0.CO;2-#
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Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.
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- Human Mutation, 1997, v. 9, n. 2, p. 188, doi. 10.1002/(SICI)1098-1004(1997)9:2<188::AID-HUMU15>3.0.CO;2-Z
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Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease.
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- Human Mutation, 1997, v. 9, n. 2, p. 97, doi. 10.1002/(SICI)1098-1004(1997)9:2<97::AID-HUMU1>3.0.CO;2-M
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Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 ( REP-1) gene.
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- Human Mutation, 1997, v. 9, n. 2, p. 110, doi. 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D
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Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system.
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- Human Mutation, 1997, v. 9, n. 2, p. 164, doi. 10.1002/(SICI)1098-1004(1997)9:2<164::AID-HUMU9>3.0.CO;2-9
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Introduction of a myc reporter tag to improve the quality of mutation detection using the protein truncation test.
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- Human Mutation, 1997, v. 9, n. 2, p. 172, doi. 10.1002/(SICI)1098-1004(1997)9:2<172::AID-HUMU10>3.0.CO;2-#
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Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
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- Human Mutation, 1997, v. 9, n. 2, p. 122, doi. 10.1002/(SICI)1098-1004(1997)9:2<122::AID-HUMU4>3.0.CO;2-B
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Three germline mutations in the TP53 gene.
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- Human Mutation, 1997, v. 9, n. 2, p. 157, doi. 10.1002/(SICI)1098-1004(1997)9:2<157::AID-HUMU8>3.0.CO;2-6
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Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
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- Human Mutation, 1997, v. 9, n. 2, p. 183, doi. 10.1002/(SICI)1098-1004(1997)9:2<183::AID-HUMU13>3.0.CO;2-Z
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Mutations in purine nucleoside phosphorylase deficiency.
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- Human Mutation, 1997, v. 9, n. 2, p. 118, doi. 10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5
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Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor.
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- Human Mutation, 1997, v. 9, n. 2, p. 185, doi. 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z
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Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent.
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- Human Mutation, 1997, v. 9, n. 2, p. 148, doi. 10.1002/(SICI)1098-1004(1997)9:2<148::AID-HUMU7>3.0.CO;2-5
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