Works matching IS 14345161 AND DT 2004 AND VI 49 AND IP 1
Results: 10
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 61
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Hypercholesterolemia associated with splice-junction variation of inter-α-trypsin inhibitor heavy chain 4 (ITIH4) gene.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 24
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Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 16, doi. 10.1007/s10038-003-0100-9
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Genomewide linkage analysis of familial prostate cancer in the Japanese population.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 9
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Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 29, doi. 10.1007/s10038-003-0103-6
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Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5’ UTR end of ClC-5 mRNA in human renal tissue and leukocytes.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 53, doi. 10.1007/s10038-003-0108-1
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Structural and immunocytochemical studies on α-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 1, doi. 10.1007/s10038-003-0098-z
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Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 35
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Common single nucleotide polymorphisms of the MDR1 gene have no influence on its mRNA expression level of normal kidney cortex and renal cell carcinoma in Japanese nephrectomized patients.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 40, doi. 10.1007/s10038-003-0105-4
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Deregulated expression of KRAP, a novel gene encoding actin-interacting protein, in human colon cancer cells.
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- Journal of Human Genetics, 2004, v. 49, n. 1, p. 46, doi. 10.1007/s10038-003-0106-3
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- Article