An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.

Author:

Kotze M J,Warnich L,Langenhoven E,du Plessis L,Retief A E

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. The metabolic basis of inherited disease;Goldstein, J.L.,1983

2. Prevalence of familial hypercholesterolaemia in three rural South African communities. base substitution at nucleotide position 681, resulting in a substitution of a glutamic acid for an aspartic acid S Afr MedJ;Jooste, P.L.; Benade, A.J.S.; Rossouw, J.E.,1986

3. Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolaemic patients;der Westhuizen DR, Van; GA, Coetzee; IPC, Demasius;Arteriosclerosis,1984

4. A host of hypercholesterolaemic homozygotes in South Africa;Seftel, H.C.; Baker, S.G.; Sandler, M.P.;Br Med,1980

5. Kinetic defects in the processing of the LDL receptor in fibroblasts from WHHL rabbits and a family with familial hypercholesterolemia;Schneider, W.J.; Brown, M.S.; Goldstein, J.L.;Mol Biol Med,1983

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