Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote

Atherosclerosis

Volumn 125, Issue 1, 1996, Pages 111-119

  Langenhoven, Elzet ^a   Warnich, Louise ^a,c   Thiart, Rochelle ^a   Rubinsztein, David C ^b,d   Van Der Westhuyzen, Deneys R ^b,e   Marais, A David ^b   Kotze, Maritha J ^a  

^a UNIVERSITY OF STELLENBOSCH   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

^c STELLENBOSCH UNIVERSITY   (South Africa)

^d Molecular Genetics Laboratories   (United Kingdom)

^e UNIVERSITY OF KENTUCKY   (United States)

Author keywords

DNA diagnosis; Initiation codon mutation; Low density lipoprotein receptor; Polymerase chain reaction

Indexed keywords

DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IODINE 125; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; PEDIGREE ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTH AFRICA; STOP CODON;

EID: 0030599013     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/0021-9150(96)05871-6     Document Type: Article

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