Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 2
Results: 10
Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthma.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 99, doi. 10.1007/s100380200009
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A new haplogroup pattern displayed in Fujian Han in China.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 95
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Distinctive distribution of AIM1 polymorphism among major human populations with different skin color.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 92, doi. 10.1007/s100380200007
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Functional polymorphism in the promoter region of the gelatinase B gene in relation to coronary artery disease and restenosis after percutaneous coronary intervention.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 88, doi. 10.1007/s100380200006
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Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 80, doi. 10.1007/s100380200005
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Nonaka myopathy is caused by mutations in the UDP- N-acetylglucosamine-2- epimerase/ N-acetylmannosamine kinase gene ( GNE).
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 77, doi. 10.1007/s100380200004
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Thirteen single-nucleotide polymorphisms (SNPs) in the alcohol dehydrogenase 4 ( ADH4) gene locus.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 74, doi. 10.1007/s100380200003
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Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 66, doi. 10.1007/s100380200002
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Molecular analysis of mutations and polymorphisms of the Lewis secretor type α (1,2)-fucosyltransferase gene reveals that Taiwan aborigines are of Austronesian derivation.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 60, doi. 10.1007/s100380200001
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Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 55, doi. 10.1007/s100380200000
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