Article
Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.
Gastroenterology - 1 Aug 2000
Piperno A, Arosio C, Fossati L, Viganò M, Trombini P, Vergani A, Mancia G
Abstract excerpt
BACKGROUND & AIMS: Most hemochromatosis patients of Northern European descent are homozygous for the C282Y mutation of HFE gene. In Italy, many patients with iron overload are not homozygous for C282Y, and the presence of other mutations or other genetic determinant has been suggested. METHODS: Five unrelated Italian patients heterozygous for C282Y with the classic hemochromatosis phenotype were studied. The...
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