Article
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Human mutation - 1 Aug 2004
Mozas Pilar, Castillo Sergio, Tejedor Diego, Reyes Gilberto, Alonso Rodrigo, Franco Miguel, Saenz Pedro, Fuentes Francisco, Almagro Fátima, Mata Pedro, Pocoví Miguel
Abstract excerpt
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), an autosomal dominant inherited disorder associated with an increased risk of premature atherosclerosis. The aim of this study was to characterize the LDLR mutations in a group of 476 apparently non-related Spanish FH patients. The promoter region and the 18 exons with their flanking intron sequences of the...
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