The genetic spectrum of familial hypercholesterolemia in Pakistan

Clinica Chimica Acta

Volumn 421, Issue , 2013, Pages 219-225

  Ahmed, Waqas ^a,b   Whittall, Ros ^b   Riaz, Moeen ^a   Ajmal, Muhammad ^a,c   Sadeque, Ahmed ^a   Ayub, Humaira ^a   Qamar, Raheel ^a,c   Humphries, Steve E ^b  

^a COMSATS Institute of Information Technology ^*  (Pakistan)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ISRA UNIVERSITY   (Pakistan)

Author keywords

Consanguinity; Familial hypercholesterolemia; HRM; LDLR; PCSK9; Xanthomas

Indexed keywords

APOLIPOPROTEIN B100; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL; APOLIPOPROTEIN B; LDLR PROTEIN, HUMAN; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE;

ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN B GENE; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; DYSLIPIDEMIA; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HEART INFARCTION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INDEL MUTATION; INTRON; LOSS OF FUNCTION MUTATION; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MALE; MUTATIONAL ANALYSIS; PAKISTAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROPROTEIN CONVERTASE SUBTILASE KEXIN TYPE 9 GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; AMINO ACID SEQUENCE; GENETIC HETEROGENEITY; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE;

ADULT; AMINO ACID SEQUENCE; APOLIPOPROTEINS B; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC HETEROGENEITY; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES;

EID: 84876447623     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.03.017     Document Type: Article

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