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Article

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

Atherosclerosis - 1 Dec 2002

Yu Wenxin, Nohara Atsushi, Higashikata Toshinori, Lu Hong, Inazu Akihiro, Mabuchi Hiroshi

Abstract excerpt

To determine the molecular basis of familial hypercholesterolemia (FH) in Japan, 200 unrelated patients with clinically diagnosed heterozygous FH were screened for mutations in coding and promoter region of the low density lipoprotein (LDL) receptor gene using denaturing gradient-gel electrophoresis (DGGE), DNA sequencing and Southern blotting analysis. About 37 different mutations in the LDL receptor gene were...

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PMID: 12417285
DOI: 10.1016/s0021-9150(02)00249-6

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