A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia

Molecular Biology Reports

Volumn 39, Issue 7, 2012, Pages 7831-7838

  Chahil, J K ^a   Lye, S H ^a   Bagali, P G ^a   Alex, L ^a  

^a MINES Waterfront Business Park   (Malaysia)

Author keywords

FH; LDLC; Mutation; Novel; SNP

Indexed keywords

APOLIPOPROTEIN B100; CHOLESTEROL; KEXIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; SUBTILISIN;

ARTICLE; ASIAN; CARDIOVASCULAR DISEASE; CHILD; CONTROLLED STUDY; DEATH; DISEASE SEVERITY; ETHNIC GROUP; ETHNICITY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LIPID METABOLISM; MAJOR CLINICAL STUDY; MALAY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9 GENE; RECEPTOR GENE; SCHOOL CHILD; SIBLING;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHOLESTEROL, LDL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; HYPERCHOLESTEROLEMIA; MALAYSIA; MALE; MUTATION, MISSENSE; PROTEIN STRUCTURE, SECONDARY; QUESTIONNAIRES; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA;

EID: 84864289771     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-012-1626-8     Document Type: Article

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