Article
Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia.
Seminars in vascular medicine - 1 Aug 2004
Calandra Sebastiano, Bertolini Stefano, Pes Giovanni Mario, Deiana Luca, Tarugi Patrizia, Pisciotta Livia, Li Volti Salvatore, Li Volti Giovanni, Maccarone Carmela
Abstract excerpt
Familial hypercholesterolemia (FH) is a codominant disorder due to a variety of mutations of the low-density lipoprotein (LDL) receptor gene that result in an elevation of plasma LDL-cholesterol (LDL-C). Plasma levels of LDL-C show large interindividual variation even in subjects carrying the same mutation of the LDL receptor gene. This variability may be due to genetic factors (modifier genes). Several surveys...
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