A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family

Chinese Medical Journal

Volumn 123, Issue 9, 2010, Pages 1133-1138

  Lin, Jie ^a,b   Wang, Lu Ya ^b   Liu, Shu ^b   Wang, Xu Min ^c   Yong, Qiang ^b   Yang, Ya ^b   Du, Lan Ping ^b   Pan, Xiao Dong ^b   Wang, Xu ^b   Jiang, Zhi Sheng ^a  

^a UNIVERSITY OF SOUTH CHINA   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

^c Chinese Academy of Sciences and China National Center for Bioinformation   (China)

Author keywords

Coronary heart disease; Familial hypercholesterolemia; Gain of function; Low density lipoprotein receptor; Proprotein convertase subtilisin kexin type 9 gene

Indexed keywords

APOLIPOPROTEIN B100; GUANOSINE; LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9 PROTEIN; SERINE PROTEINASE; THYMIDINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY; FEMALE; GENE EXPRESSION; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUTANT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRESCHOOL CHILD; SITE DIRECTED MUTAGENESIS; WILD TYPE;

ADOLESCENT; ADULT; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPIDS; MALE; MUTATION; PEDIGREE; SERINE ENDOPEPTIDASES;

EID: 77952371546     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2010.09.006     Document Type: Article

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