Works matching IS 10597794 AND DT 2002 AND VI 19 AND IP 4
Results: 26
Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S.
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- Human Mutation, 2002, v. 19, n. 4, p. 461, doi. 10.1002/humu.9030
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A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
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- Human Mutation, 2002, v. 19, n. 4, p. 458, doi. 10.1002/humu.9023
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A surface invasive cleavage assay for highly parallel SNP analysis.
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- Human Mutation, 2002, v. 19, n. 4, p. 416, doi. 10.1002/humu.10071
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A BRCA1 mutation in Native North American families.
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- Human Mutation, 2002, v. 19, n. 4, p. 460, doi. 10.1002/humu.9027
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New developments in high-throughput resequencing and variation detection using high density microarrays.
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- Human Mutation, 2002, v. 19, n. 4, p. 402, doi. 10.1002/humu.10075
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Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis.
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- Human Mutation, 2002, v. 19, n. 4, p. 384, doi. 10.1002/humu.10086
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Missense mutations of human homeoboxes: A review.
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- Human Mutation, 2002, v. 19, n. 4, p. 457, doi. 10.1002/humu.10070
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Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
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- Human Mutation, 2002, v. 19, n. 4, p. 423, doi. 10.1002/humu.10063
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Sequence variations in the mu-opioid receptor gene (OPRM1) associated with human addiction to heroin.
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- Human Mutation, 2002, v. 19, n. 4, p. 459, doi. 10.1002/humu.9026
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Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
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- Human Mutation, 2002, v. 19, n. 4, p. 462, doi. 10.1002/humu.9032
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Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′nuclease (Taqman<sup>®</sup>) assay.
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- Human Mutation, 2002, v. 19, n. 4, p. 395, doi. 10.1002/humu.10062
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An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus.
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- Human Mutation, 2002, v. 19, n. 4, p. 459, doi. 10.1002/humu.9025
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Making ends meet in genetic analysis using padlock probes.
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- Human Mutation, 2002, v. 19, n. 4, p. 410, doi. 10.1002/humu.10073
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Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:ψ BRCA1 recombination.
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- Human Mutation, 2002, v. 19, n. 4, p. 435, doi. 10.1002/humu.10055
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Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.
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- Human Mutation, 2002, v. 19, n. 4, p. 461, doi. 10.1002/humu.9029
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Analysis of SNPs and other genomic variations using gel-based chips.
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- Human Mutation, 2002, v. 19, n. 4, p. 343, doi. 10.1002/humu.10077
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Mutation detection 2001: Novel technologies, developments and applications for analysis of the human genome.
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- Human Mutation, 2002, v. 19, n. 4, p. 313, doi. 10.1002/humu.10088
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An update on conformation sensitive gel electrophoresis.
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- Human Mutation, 2002, v. 19, n. 4, p. 334, doi. 10.1002/humu.10059
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A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X.
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- Human Mutation, 2002, v. 19, n. 4, p. 462, doi. 10.1002/humu.9031
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Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory.
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- Human Mutation, 2002, v. 19, n. 4, p. 324, doi. 10.1002/humu.10061
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The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
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- Human Mutation, 2002, v. 19, n. 4, p. 458, doi. 10.1002/humu.9024
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Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
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- Human Mutation, 2002, v. 19, n. 4, p. 443, doi. 10.1002/humu.10054
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DHPLC screening of cystic fibrosis gene mutations.
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- Human Mutation, 2002, v. 19, n. 4, p. 374, doi. 10.1002/humu.10065
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APC germline mutations identified in Czech patients with familial adenomatous polyposis.
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- Human Mutation, 2002, v. 19, n. 4, p. 460, doi. 10.1002/humu.9028
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Determining sequence length or content in zero, one, and two dimensions.
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- Human Mutation, 2002, v. 19, n. 4, p. 361, doi. 10.1002/humu.10087
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SNP genotyping with fluorescence polarization detection.
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- Human Mutation, 2002, v. 19, n. 4, p. 315, doi. 10.1002/humu.10058
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