A Chinese homozygote of familial hypercholesterolemia: Identification of a novel C263R mutation in the LDL receptor gene

Journal of Human Genetics

Volumn 46, Issue 3, 2001, Pages 152-154

  Wang, D ^a   Wu, B ^a   Li, Y ^a   Heng, W ^a   Zhong, H ^a   Mu, Y ^b   Wang, J ^b  

^a PEKING UNIVERSITY   (China)

^b PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

Author keywords

Familial hypercholesterolemia; LDL receptor; Lipoproteins; Mutations; Phenotype

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CHINESE; CORONARY ARTERY DISEASE; FAMILIAL DISEASE; GENE MUTATION; HOMOZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA; MALE; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; XANTHOMA;

BASE SEQUENCE; CHILD, PRESCHOOL; CHINA; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL;

EID: 0035066559     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380170104     Document Type: Article

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