A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkena...

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Detalhes bibliográficos
Main Authors: Meiner, V, Landsberger, D, Berkman, N, Reshef, A, Segal, P, Seftel, H C, van der Westhuyzen, D R, Jeenah, M S, Coetzee, G A, Leitersdorf, E
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683281/
https://ncbi.nlm.nih.gov/pubmed/1867200
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