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Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.

Atherosclerosis - 1 Mar 2009

Miyake Yasuko, Yamamura Taku, Sakai Naohiko, Miyata Toshiyuki, Kokubo Yoshihiro, Yamamoto Akira

Abstract excerpt

We investigated the LDLR gene mutations in 205 unrelated Japanese FH (familial hypercholesterolemia) heterozygotes to see if there is a prevalence of common mutations in the Japanese population. A total of 53 different small mutations (<25bp) and 10 kinds of large deletions (>25bp) were identified. Among them there were eight relatively frequent mutations: C317S, c.1845+2T>C, K790X, L547V, P664L, D412H,...

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PMID: 18718593
DOI: 10.1016/j.atherosclerosis.2008.07.005

Genes

LDLR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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