Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 4
Results: 22
A novel mutation L1425p in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE);.
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- Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU12>3.0.CO;2-F
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WRN mutations in Werner syndrome.
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- Human Mutation, 1999, v. 13, n. 4, p. 271, doi. 10.1002/(SICI)1098-1004(1999)13:4<271::AID-HUMU2>3.0.CO;2-Q
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Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis.
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- Human Mutation, 1999, v. 13, n. 4, p. 338, doi. 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0
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Low yield of polymorphisms from EST blast searching: Analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1.
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- Human Mutation, 1999, v. 13, n. 4, p. 294, doi. 10.1002/(SICI)1098-1004(1999)13:4<294::AID-HUMU6>3.0.CO;2-5
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Co-segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss-of-function?
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- Human Mutation, 1999, v. 13, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1999)13:4<331::AID-HUMU11>3.0.CO;2-#
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Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia.
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- Human Mutation, 1999, v. 13, n. 4, p. 341, doi. 10.1002/(SICI)1098-1004(1999)13:4<341::AID-HUMU22>3.0.CO;2-V
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Mitochondrial deafness mutations reviewed.
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- Human Mutation, 1999, v. 13, n. 4, p. 261, doi. 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W
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Identification of 6 new mutations in the iduronate sulfatase gene.
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- Human Mutation, 1999, v. 13, n. 4, p. 338, doi. 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU15>3.0.CO;2-3
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Characterisation of 16 polymorphic markers in the NF2 gene: Application to hemizygosity detection.
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- Human Mutation, 1999, v. 13, n. 4, p. 290, doi. 10.1002/(SICI)1098-1004(1999)13:4<290::AID-HUMU5>3.0.CO;2-C
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Corrigendum: 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. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1999)13:4<340::AID-HUMU19>3.0.CO;2-E
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High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants.
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- Human Mutation, 1999, v. 13, n. 4, p. 318, doi. 10.1002/(SICI)1098-1004(1999)13:4<318::AID-HUMU9>3.0.CO;2-F
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Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat.
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- Human Mutation, 1999, v. 13, n. 4, p. 328, doi. 10.1002/(SICI)1098-1004(1999)13:4<328::AID-HUMU10>3.0.CO;2-J
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A novel −27A>G point mutation in the beta globin gene.
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- Human Mutation, 1999, v. 13, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1999)13:4<340::AID-HUMU21>3.0.CO;2-0
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Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC;.
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- Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU14>3.0.CO;2-9
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Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.
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- Human Mutation, 1999, v. 13, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C
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Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin : T55I, R164Q, V120E.
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- Human Mutation, 1999, v. 13, n. 4, p. 339, doi. 10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S
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Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability.
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- Human Mutation, 1999, v. 13, n. 4, p. 311, doi. 10.1002/(SICI)1098-1004(1999)13:4<311::AID-HUMU8>3.0.CO;2-P
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A novel BRCA1 mutation (1099 delCA stop codon 328) linked to breast and/or ovarian cancer.
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- Human Mutation, 1999, v. 13, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1999)13:4<340::AID-HUMU20>3.0.CO;2-3
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Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
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- Human Mutation, 1999, v. 13, n. 4, p. 301, doi. 10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V
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Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.
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- Human Mutation, 1999, v. 13, n. 4, p. 280, doi. 10.1002/(SICI)1098-1004(1999)13:4<280::AID-HUMU3>3.0.CO;2-L
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A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): A founder mutation in the Palestinian Arabs.
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- Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU13>3.0.CO;2-C
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Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y.
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- Human Mutation, 1999, v. 13, n. 4, p. 339, doi. 10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU17>3.0.CO;2-V
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