Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 4
Results: 19
Low density lipoprotein receptor ( LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
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- Human Mutation, 2001, v. 18, n. 4, p. 359, doi. 10.1002/humu.1205
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- Article
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.
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- Human Mutation, 2001, v. 18, n. 4, p. 319, doi. 10.1002/humu.1193
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Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
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- Human Mutation, 2001, v. 18, n. 4, p. 264, doi. 10.1002/humu.1189
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- Article
Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.
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- Human Mutation, 2001, v. 18, n. 4, p. 356, doi. 10.1002/humu.1200
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- Article
Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples.
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- Human Mutation, 2001, v. 18, n. 4, p. 358, doi. 10.1002/humu.1204
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Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
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- Human Mutation, 2001, v. 18, n. 4, p. 308, doi. 10.1002/humu.1192
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Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
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- Human Mutation, 2001, v. 18, n. 4, p. 255, doi. 10.1002/humu.1188
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10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland.
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- Human Mutation, 2001, v. 18, n. 4, p. 352, doi. 10.1002/humu.1197
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Genotype-phenotype comparison of the Swiss malignant hyperthermia population.
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- Human Mutation, 2001, v. 18, n. 4, p. 357, doi. 10.1002/humu.1203
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- Article
Improved detection of CFTR mutations in Southern California Hispanic CF patients.
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- Human Mutation, 2001, v. 18, n. 4, p. 296, doi. 10.1002/humu.1191
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Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP).
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- Human Mutation, 2001, v. 18, n. 4, p. 337, doi. 10.1002/humu.1195
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Analysis of a non-functional HNF-1α (TCF1) mutation in Japanese subjects with familial type 1 diabetes.
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- Human Mutation, 2001, v. 18, n. 4, p. 345, doi. 10.1002/humu.1196
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Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
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- Human Mutation, 2001, v. 18, n. 4, p. 355, doi. 10.1002/humu.1199
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- Article
Oncogenic levels of mitogen-activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12-13VC.
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- Human Mutation, 2001, v. 18, n. 4, p. 357, doi. 10.1002/humu.1202
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Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
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- Human Mutation, 2001, v. 18, n. 4, p. 282, doi. 10.1002/humu.1190
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Mutations in ATP-cassette binding proteins G5 ( ABCG5) and G8 ( ABCG8) causing sitosterolemia.
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- Human Mutation, 2001, v. 18, n. 4, p. 359, doi. 10.1002/humu.1206
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- Article
Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes.
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- Human Mutation, 2001, v. 18, n. 4, p. 327, doi. 10.1002/humu.1194
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- Article
Mutation analysis of the adenomatous polyposis coli ( APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.
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- Human Mutation, 2001, v. 18, n. 4, p. 355, doi. 10.1002/humu.1198
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Studies of the variability of the hepatocyte nuclear factor-1β (HNF-1β / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and β-cell function.
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- Human Mutation, 2001, v. 18, n. 4, p. 356, doi. 10.1002/humu.1201
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- Article