Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

Atherosclerosis

Volumn 229, Issue 1, 2013, Pages 161-168

  Futema, Marta ^a   Whittall, Ros A ^a   Kiley, Amy ^a   Steel, Louisa K ^a   Cooper, Jackie A ^a   Badmus, Ebele ^a   Leigh, Sarah E ^a   Karpe, Fredrik ^b   Neil, H Andrew W ^c   Humphries, Steve E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

ARMS; CHD; Cholesterol; DFH; Diagnostics; DLCN; Familial hypercholesterolaemia; FH; Genetic; HRM; Lipids; MLPA; Mutations; NGS; NICE; PFH; TC; TG; UH

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL PRACTICE; COMPARATIVE STUDY; CROSS-SECTIONAL STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; HOSPITAL; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; TRIACYLGLYCEROL BLOOD LEVEL; UNITED KINGDOM;

ADULT; AGED; APOLIPOPROTEINS B; CHOLESTEROL; COHORT STUDIES; FEMALE; GENETIC TESTING; GREAT BRITAIN; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; OUTPATIENT CLINICS, HOSPITAL; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES; TRIGLYCERIDES;

EID: 84879415822     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2013.04.011     Document Type: Article

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