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

Atherosclerosis

Volumn 203, Issue 1, 2009, Pages 153-160

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

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Common mutations; Familial hypercholesterolemia; LDLR gene; Mild type mutation; Residual receptor activity

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN CELL; JAPAN; LDLR GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE;

ADULT; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENETIC VARIATION; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; JAPAN; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTORS, LDL;

EID: 60649091892     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2008.07.005     Document Type: Article

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