Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 2
Results: 13
Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene-Lessons for corneal amyloidogenesis.
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- Human Mutation, 1999, v. 14, n. 2, p. 126, doi. 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W
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Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus.
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- Human Mutation, 1999, v. 14, n. 2, p. 163, doi. 10.1002/(SICI)1098-1004(1999)14:2<163::AID-HUMU8>3.0.CO;2-B
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Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
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- Human Mutation, 1999, v. 14, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU10>3.0.CO;2-6
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Clinical spectrum of fibroblast growth factor receptor mutations.
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- Human Mutation, 1999, v. 14, n. 2, p. 115, doi. 10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2
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New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
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- Human Mutation, 1999, v. 14, n. 2, p. 156, doi. 10.1002/(SICI)1098-1004(1999)14:2<156::AID-HUMU7>3.0.CO;2-E
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A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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- Human Mutation, 1999, v. 14, n. 2, p. 182, doi. 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU13>3.0.CO;2-V
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Update of the androgen receptor gene mutations database.
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- Human Mutation, 1999, v. 14, n. 2, p. 103, doi. 10.1002/(SICI)1098-1004(1999)14:2<103::AID-HUMU2>3.0.CO;2-A
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A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon.
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- Human Mutation, 1999, v. 14, n. 2, p. 145, doi. 10.1002/(SICI)1098-1004(1999)14:2<145::AID-HUMU6>3.0.CO;2-L
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A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
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- Human Mutation, 1999, v. 14, n. 2, p. 182, doi. 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU12>3.0.CO;2-Y
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The protein truncation test: A review.
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- Human Mutation, 1999, v. 14, n. 2, p. 95, doi. 10.1002/(SICI)1098-1004(1999)14:2<95::AID-HUMU1>3.0.CO;2-G
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Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypes.
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- Human Mutation, 1999, v. 14, n. 2, p. 175, doi. 10.1002/(SICI)1098-1004(1999)14:2<175::AID-HUMU9>3.0.CO;2-3
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Identification of three novel mutations in the MYO7A gene.
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- Human Mutation, 1999, v. 14, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3
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Cystic fibrosis patients with the 3272-26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
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- Human Mutation, 1999, v. 14, n. 2, p. 133, doi. 10.1002/(SICI)1098-1004(1999)14:2<133::AID-HUMU5>3.0.CO;2-T
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