The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 - PubMed (original) (raw)
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
C Camaschella et al. Nat Genet. 2000 May.
Abstract
Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFE on 6p (refs 1-5). A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3.
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