Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients

Nutrition, Metabolism and Cardiovascular Diseases

Volumn 19, Issue 6, 2009, Pages 391-400

  Wang, L ^a   Lin, J ^a,b   Liu, S ^a   Cao, S ^a   Liu, J ^a   Yong, Q ^a   Yang, Y ^a   Wu, B ^a   Pan, X ^a   Du, L ^a   Wu, C ^a   Qin, Y ^a   Chen, B ^c  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b UNIVERSITY OF SOUTH CHINA   (China)

^c PEKING UNION MEDICAL COLLEGE   (China)

Author keywords

Chinese population; Familial hypercholesterolemia; Homozygous phenotype; Low density lipoprotein receptor; Novel mutation

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ADULT; AORTA VALVE; ARTICLE; ASIAN; BLOOD; CAROTID ARTERY; CELL LINE; CHINA; CORONARY ARTERY BLOOD FLOW; DOPPLER ECHOCARDIOGRAPHY; ECHOGRAPHY; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HOMOZYGOTE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; INTIMA; INTRON; MALE; METABOLISM; MITRAL VALVE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POINT MUTATION; RNA SPLICING; TUNICA MEDIA; UPREGULATION;

ADOLESCENT; ADULT; AORTIC VALVE; ASIAN CONTINENTAL ANCESTRY GROUP; CAROTID ARTERIES; CELL LINE; CHINA; CHOLESTEROL, LDL; CORONARY CIRCULATION; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY, DOPPLER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTRONS; MALE; MITRAL VALVE; PEDIGREE; PHENOTYPE; POINT MUTATION; RECEPTORS, LDL; RNA SPLICE SITES; TRANSFECTION; TUNICA INTIMA; TUNICA MEDIA; UP-REGULATION;

EID: 67349260690     PISSN: 09394753     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.numecd.2008.07.011     Document Type: Article

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