Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 2
Results: 24
Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism.
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- Human Mutation, 1999, v. 13, n. 2, p. 99, doi. 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C
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Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).
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- Human Mutation, 1999, v. 13, n. 2, p. 141, doi. 10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q
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A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs.
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- Human Mutation, 1999, v. 13, n. 2, p. 166, doi. 10.1002/(SICI)1098-1004(1999)13:2<166::AID-HUMU10>3.0.CO;2-X
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Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure.
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- Human Mutation, 1999, v. 13, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU21>3.0.CO;2-0
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Identification of eleven novel tumor-associated e-cadherin mutations.
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- Human Mutation, 1999, v. 13, n. 2, p. 171, doi. 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU14>3.0.CO;2-Z
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A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones.
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- Human Mutation, 1999, v. 13, n. 2, p. 172, doi. 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU18>3.0.CO;2-K
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Human genetic diseases of proteolysis.
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- Human Mutation, 1999, v. 13, n. 2, p. 87, doi. 10.1002/(SICI)1098-1004(1999)13:2<87::AID-HUMU1>3.0.CO;2-K
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Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity.
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- Human Mutation, 1999, v. 13, n. 2, p. 133, doi. 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U
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Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.
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- Human Mutation, 1999, v. 13, n. 2, p. 160, doi. 10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO;2-C
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Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement.
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- Human Mutation, 1999, v. 13, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3
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Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay.
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- Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU13>3.0.CO;2-4
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Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis.
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- Human Mutation, 1999, v. 13, n. 2, p. 174, doi. 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU24>3.0.CO;2-P
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Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis.
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- Human Mutation, 1999, v. 13, n. 2, p. 172, doi. 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU17>3.0.CO;2-N
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Detection of mutations in COL4A5 in patients with Alport Syndrome.
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- Human Mutation, 1999, v. 13, n. 2, p. 124, doi. 10.1002/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z
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The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.
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- Human Mutation, 1999, v. 13, n. 2, p. 146, doi. 10.1002/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.0.CO;2-I
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Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy.
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- Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7
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Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia.
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- Human Mutation, 1999, v. 13, n. 2, p. 171, doi. 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU16>3.0.CO;2-T
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Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak syndrome.
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- Human Mutation, 1999, v. 13, n. 2, p. 174, doi. 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU23>3.0.CO;2-S
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A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.
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- Human Mutation, 1999, v. 13, n. 2, p. 154, doi. 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E
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Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation.
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- Human Mutation, 1999, v. 13, n. 2, p. 116, doi. 10.1002/(SICI)1098-1004(1999)13:2<116::AID-HUMU3>3.0.CO;2-2
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A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers.
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- Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU11>3.0.CO;2-A
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Identification of a mutation in the human raloxifene response element of the transforming growth factor-β 3 gene.
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- Human Mutation, 1999, v. 13, n. 2, p. 174, doi. 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU22>3.0.CO;2-V
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Identification of the mutation in the alkaptonuria mouse model.
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- Human Mutation, 1999, v. 13, n. 2, p. 171, doi. 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU15>3.0.CO;2-W
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Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified.
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- Human Mutation, 1999, v. 13, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU19>3.0.CO;2-E
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