Familial hypercholesterolemia: Potential diagnostic value of mutation screening in a pediatric population of South Africa

Clinical Genetics

Volumn 54, Issue 1, 1998, Pages 74-78

  Kotze, Maritha J ^a,b   Peeters, Armand V ^a,b   Loubser, Odell ^b,f   Theart, Leonora ^b   Du Plessis, Lana ^b   Hayes, Vanessa M ^b   De Jong, Greetje ^b   De Villiers, J Nico P ^a,b   Lombard, Carl J ^c   Hansen, Peter S ^d   Raal, Frederick J ^e  

^a STELLENBOSCH UNIVERSITY   (South Africa)

^b UNIVERSITY OF STELLENBOSCH   (South Africa)

^c Biostatistics Unit   (South Africa)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

^e UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

DNA screening; Familial hypercholesterolemia; Founder mutation; Low density lipoprotein receptor; Phenotypic expression

Indexed keywords

LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CHILD; DIAGNOSTIC VALUE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; NORMAL HUMAN; PEDIATRICS; PRIORITY JOURNAL; RECEPTOR GENE; SOUTH AFRICA;

EID: 0031903479     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb03698.x     Document Type: Article

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