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Article

Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.

Atherosclerosis - 1 Nov 2009

Filigheddu Fabiana, Quagliarini Fabiana, Campagna Filomena, Secci Tanuccia, Degortes Simona, Zaninello Roberta, Argiolas Giuseppe, Verna Roberto, Pitzoi Silvia, Frau Francesca, Troffa Chiara, Bulla Emanuela, Bertolini Stefano, Glorioso Nicola, Arca Marcello

Abstract excerpt

OBJECTIVE: Autosomal recessive hypercholesterolemia (ARH) is a lipid disorder caused by mutations in a specific adaptor protein for the LDL receptor. ARH is rare except in Sardinia where three alleles (ARH1, ARH2 and ARH3) explain most of cases. The prevalence of ARH heterozygotes in Sardinia is not well determined as well as inconclusive data are available on the effect of the ARH carrier status on LDL...

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Identifiers

PMID: 19477448
DOI: 10.1016/j.atherosclerosis.2009.04.027

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