Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia

Molecular Biology Reports

Volumn 37, Issue 8, 2010, Pages 3869-3875

  Ajmal, Muhammad ^a,b   Ahmed, Waqas ^a   Sadeque, Ahmed ^a   Ali, Syeda Hafiza Benish ^a   Bokhari, Syed Habib ^a   Ahmed, Nuzhat ^c   Qamar, Raheel ^a,b  

^a Department of Electrical Computer Engineering   (Pakistan)

^b SHIFA COLLEGE OF MEDICINE   (Pakistan)

^c UNIVERSITY OF KARACHI   (Pakistan)

Author keywords

Familial hypercholesterolemia; Insertion mutation; Low density lipoprotein receptor

Indexed keywords

APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY BYPASS SURGERY; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE FREQUENCY; GENE INSERTION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HEART INFARCTION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LIPID ANALYSIS; MALE; NULL ALLELE; PAKISTAN; PEDIGREE ANALYSIS; POINT MUTATION; PRESCHOOL CHILD; SEQUENCE ANALYSIS; TRIACYLGLYCEROL BLOOD LEVEL; XANTHOMA;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; PAKISTAN; PEDIGREE; RECEPTORS, LDL; RECURRENCE; XANTHOMATOSIS;

EID: 78149469153     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-010-0043-0     Document Type: Article

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