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- Title
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
- Authors
Camaschella, Clara; Roetto, Antonella; Calì, Angelita; De Gobbi, Marco; Garozzo, Giovanni; Carella, Massimo; Majorano, Nunzia; Totaro, Angela; Gasparini, Paolo
- 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.
- Subjects
HEMOCHROMATOSIS; TRANSFERRIN
- Publication
Nature Genetics, 2000, Vol 25, Issue 1, p14
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/75534