Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 3
Results: 24
Third international meeting on the genetic epidemiology of complex traits, April 4-6, 2002, Cambridge, UK.
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- Human Mutation, 2002, v. 20, n. 3, p. 227, doi. 10.1002/humu.10120
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Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
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- Human Mutation, 2002, v. 20, n. 3, p. 234, doi. 10.1002/humu.9058
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Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
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- Human Mutation, 2002, v. 20, n. 3, p. 153, doi. 10.1002/humu.10113
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Population genetic implications from DNA polymorphism in random human genomic sequences.
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- Human Mutation, 2002, v. 20, n. 3, p. 209, doi. 10.1002/humu.10117
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Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
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- Human Mutation, 2002, v. 20, n. 3, p. 235, doi. 10.1002/humu.9060
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A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.
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- Human Mutation, 2002, v. 20, n. 3, p. 232, doi. 10.1002/humu.9053
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Human piebaldism: six novel mutations of the proto-oncogene KIT.
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- Human Mutation, 2002, v. 20, n. 3, p. 234, doi. 10.1002/humu.9057
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TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
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- Human Mutation, 2002, v. 20, n. 3, p. 197, doi. 10.1002/humu.10112
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Identification of seven novel mutations of F8C by DHPLC.
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- Human Mutation, 2002, v. 20, n. 3, p. 231, doi. 10.1002/humu.9052
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Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
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- Human Mutation, 2002, v. 20, n. 3, p. 237, doi. 10.1002/humu.9063
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Analysis of the PTCH coding region in human rhabdomyosarcoma.
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- Human Mutation, 2002, v. 20, n. 3, p. 233, doi. 10.1002/humu.9056
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Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer.
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- Human Mutation, 2002, v. 20, n. 3, p. 230, doi. 10.1002/humu.9049
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SNP databases and pharmacogenetics: great start, but a long way to go.
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- Human Mutation, 2002, v. 20, n. 3, p. 174, doi. 10.1002/humu.10115
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Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.
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- Human Mutation, 2002, v. 20, n. 3, p. 218, doi. 10.1002/humu.10108
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Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.
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- Human Mutation, 2002, v. 20, n. 3, p. 231, doi. 10.1002/humu.9051
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Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.
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- Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9062
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Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Δ2642 (E2642del) polymorphisms.
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- Human Mutation, 2002, v. 20, n. 3, p. 233, doi. 10.1002/humu.9055
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Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
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- Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9061
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Mutational analysis of patients with the diagnosis of choroideremia.
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- Human Mutation, 2002, v. 20, n. 3, p. 189, doi. 10.1002/humu.10114
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Data mining of public SNP databases for the selection of intragenic SNPs.
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- Human Mutation, 2002, v. 20, n. 3, p. 162, doi. 10.1002/humu.10107
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Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
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- Human Mutation, 2002, v. 20, n. 3, p. 180, doi. 10.1002/humu.10084
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Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A.
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- Human Mutation, 2002, v. 20, n. 3, p. 230, doi. 10.1002/humu.9050
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Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.
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- Human Mutation, 2002, v. 20, n. 3, p. 235, doi. 10.1002/humu.9059
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Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
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- Human Mutation, 2002, v. 20, n. 3, p. 232, doi. 10.1002/humu.9054
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