Article
Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.
Atherosclerosis - 1 Apr 2009
Jelassi A, Jguirim I, Najah M, Abid A M, Boughamoura L, Maatouk F, Rouis M, Boileau C, Rabès J P, Slimane M N, Varret M
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In previous studies, we have identified novel mutations in Tunisian FH families. In this study, we have extended our investigation to additional families. Five unrelated probands were...
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