CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians

Clinical Genetics

Volumn 51, Issue 6, 1997, Pages 394-398

  Kotze, Maritha J ^a   Loubser, Odell ^a   Thiart, Rochelle ^a   De Villiers, J Nico P ^a   Langenhoven, Elzet ^a   Theart, Leonora ^a   Steyn, Krisela ^b   Marais, A David ^c   Raal, Frederick J ^d  

^a UNIVERSITY OF STELLENBOSCH   (South Africa)

^b SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d UNIVERSITY OF THE WITWATERSRAND MEDICAL SCHOOL   (South Africa)

Author keywords

CpG hotspot; Familial hypercholesterolemia; Low density lipoprotein receptor; Mutation

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; INDIAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SOUTH AFRICA;

EID: 0030996013     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02497.x     Document Type: Article

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