Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients

Molecular Biology Reports

Volumn 39, Issue 7, 2012, Pages 7365-7372

  Ahmed, Waqas ^a,b   Ajmal, Muhammad ^a,c   Sadeque, Ahmed ^a   Whittall, Roslyn A ^b   Rafiq, Sobia ^d   Putt, Wendy ^b   Khawaja, Athar ^e   Imtiaz, Fauzia ^f   Ahmed, Nuzhat ^d   Azam, Maleeha ^a   Humphries, Steve E ^b   Qamar, Raheel ^a,c  

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

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c SHIFA COLLEGE OF MEDICINE   (Pakistan)

^d UNIVERSITY OF KARACHI   (Pakistan)

^e SHIFA INTERNATIONAL HOSPITAL   (Pakistan)

^f DOW UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

Author keywords

Hypercholesterolemia; LDLR; Mutation; Pakistani

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CAUSAL ATTRIBUTION; CLINICAL ARTICLE; COMPUTER MODEL; COMPUTER PREDICTION; ETHNIC GROUP; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; LDLR GENE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PAKISTANI; POLYMERASE CHAIN REACTION; POPULATION GENETICS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; AMINO ACID SEQUENCE; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, LDL; YOUNG ADULT;

EID: 84864282294     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-012-1568-1     Document Type: Article

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