Article
Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.
Human molecular genetics - 1 Oct 1999
Scholtz C L, Peeters A V, Hoogendijk C F, Thiart R, de Villiers J N, Hillermann R, Liu J, Marais A D, Kotze M J
Abstract excerpt
The low-density lipoprotein receptor (LDLR) plays a major role in cholesterol homeostasis. Mutations in the regulatory region of the LDLR gene, although rare, have been shown to alter transcriptional activity of the gene and can cause familial hypercholesterolaemia (FH). In this study, a transition (c-->t) was identified at nucleotide position -59 within repeat 2 of the LDLR promoter in a South African FH patient...
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