Article
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis.
Lancet (London, England) - 9 Mar 2002
Arca Marcello, Zuliani Giovanni, Wilund Kenneth, Campagna Filomena, Fellin Renato, Bertolini Stefano, Calandra Sebastiano, Ricci Giorgio, Glorioso Nicola, Maioli Mario, Pintus Paolo, Carru Ciriaco, Cossu Fausto, Cohen Jonathan, Hobbs Helen H
Abstract excerpt
BACKGROUND: Autosomal recessive hypercholesterolaemia (ARH) is caused by mutations in a putative adaptor protein called ARH. This recessive disorder, characterised by severe hypercholesterolaemia, xanthomatosis, and premature coronary artery disease, is rare except on the island of Sardinia, Italy. Our aim was to ascertain why ARH is more common on Sardinia than elsewhere. METHODS: We obtained detailed medical...
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