title: Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians.
abstract: The frequency of familial defective apolipoprotein B-100 (FDB) was assessed among hypercholesterolaemic Afrikaners, coloureds and Indians. Patients selected for screening did not carry any of the founder or common LDL-receptor mutations known to be associated with these groups. No FDB was detected and the mutation is therefore a rare cause of hypercholesterolaemia in these South African populations.
authors.affiliation: Department of Medical Biochemistry, University of Cape Town.
authors.forename: D C
authors.initials: DC
authors.lastname: Rubinsztein
authors.forename: G A
authors.initials: GA
authors.lastname: Coetzee
authors.forename: D R
authors.initials: DR
authors.lastname: van der Westhuyzen
authors.forename: E
authors.initials: E
authors.lastname: Langenhoven
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
mesh_terms: D001055:Apolipoproteins B / Q000097:blood / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D018703:Founder Effect; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D007194:India / Q000208:ethnology; D009154:Mutation / Q000235:genetics; D009426:Netherlands / Q000208:ethnology; D044465:White People / Q000235:genetics*
chemical_list: D001055:Apolipoproteins B