Found: 23
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Novel mutations of APOB cause apoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
- Published in:
- Human Mutation, 2002, v. 20, n. 5, p. 402, doi. 10.1002/humu.10135
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- Article
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
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- Human Mutation, 2002, v. 20, n. 5, p. 342, doi. 10.1002/humu.10128
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- Article
Clustering of variations and haplotype analysis in the highly variable region of exon 11 of BRCA1 in Chinese women with sporadic breast cancer.
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- Human Mutation, 2002, v. 20, n. 5, p. 404, doi. 10.1002/humu.9071
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The human SHOX mutation database.
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- Human Mutation, 2002, v. 20, n. 5, p. 338, doi. 10.1002/humu.10125
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- Article
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
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- Human Mutation, 2002, v. 20, n. 5, p. 382, doi. 10.1002/humu.10131
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Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.
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- Human Mutation, 2002, v. 20, n. 5, p. 358, doi. 10.1002/humu.10132
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- Article
Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa.
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- Human Mutation, 2002, v. 20, n. 5, p. 405, doi. 10.1002/humu.9072
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- Article
H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
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- Human Mutation, 2002, v. 20, n. 5, p. 407, doi. 10.1002/humu.9076
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- Article
A collection of 33 novel human mtDNA homoplasmic variants.
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- Human Mutation, 2002, v. 20, n. 5, p. 409, doi. 10.1002/humu.9079
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- Article
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
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- Human Mutation, 2002, v. 20, n. 5, p. 406, doi. 10.1002/humu.9075
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Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion.
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- Human Mutation, 2002, v. 20, n. 5, p. 403, doi. 10.1002/humu.10152
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- Article
Cyclooxygenase 1 (COX1) polymorphisms in African-American and caucasian populations.
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- Human Mutation, 2002, v. 20, n. 5, p. 409, doi. 10.1002/humu.9080
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- Article
Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations.
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- Human Mutation, 2002, v. 20, n. 5, p. 405, doi. 10.1002/humu.9073
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- Article
The detection of large deletions or duplications in genomic DNA.
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- Human Mutation, 2002, v. 20, n. 5, p. 325, doi. 10.1002/humu.10133
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- Article
A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families.
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- Human Mutation, 2002, v. 20, n. 5, p. 352, doi. 10.1002/humu.10123
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Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
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- Human Mutation, 2002, v. 20, n. 5, p. 392, doi. 10.1002/humu.10134
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- Article
The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis - novel genomic variants and functional consequences.
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- Human Mutation, 2002, v. 20, n. 5, p. 404, doi. 10.1002/humu.9070
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- Article
Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.
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- Human Mutation, 2002, v. 20, n. 5, p. 368, doi. 10.1002/humu.10138
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- Article
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
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- Human Mutation, 2002, v. 20, n. 5, p. 406, doi. 10.1002/humu.9074
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- Article
Novel O<sup>6</sup>-methylguanine-DNA methyltransferase SNPs: A frequency comparison of patients with familial melanoma and healthy individuals in Sweden.
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- Human Mutation, 2002, v. 20, n. 5, p. 408, doi. 10.1002/humu.9078
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- Article
Five novel SLC7A7 variants and y<sup>+</sup>L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
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- Human Mutation, 2002, v. 20, n. 5, p. 375, doi. 10.1002/humu.10140
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- Article
Association of a homozygous (TA)<sub>8</sub> promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.
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- Human Mutation, 2002, v. 20, n. 5, p. 399, doi. 10.1002/humu.10122
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Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.
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- Human Mutation, 2002, v. 20, n. 5, p. 408, doi. 10.1002/humu.9077
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- Article