Article
Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
Human mutation - 1 Aug 2011
De Castro-Orós Isabel, Pampín Sandra, Bolado-Carrancio Alfonso, De Cubas Aguirre, Palacios Lourdes, Plana Nuria, Puzo Jose, Martorell Esperanza, Stef Marianne, Masana Luis, Civeira Fernando, Rodríguez-Rey Jose Carlos, Pocoví Miguel
Abstract excerpt
Familial hypercholesterolemia (FH) is a dominant disorder due to mutations in the LDLR gene. Several mutations in the LDLR promoter are associated with FH. Screening of 3,705 Spanish FH patients identified 10 variants in the promoter and 5' UTR. Here, we analyse the functionality of six newly identified LDLR variants. Mutations located in the LDLR promoter regulatory elements R2 and R3...
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