Genetic variants in adult liver diseases.
In Z Gastroenterol, Dec 2015
Identification of genetic variants is an important part of the diagnostic process, e. g. the majority of patients with high iron [Fe] (HFE)-associated hemochromatosis carry the homozygous mutation p.C282Y.
Vienna, Austria. In Z Rheumatol, Sep 2015
The homozygous C282Y mutation in the HFE gene is responsible for most cases of hereditary hemochromatosis, although other much rarer mutations in other genes have been recently identified.
Lack of the bone morphogenetic protein BMP6 induces massive iron overload.
Toulouse, France. In Nat Genet, 2009
The iron burden in Bmp6 mutant mice is significantly greater than that in mice deficient in the gene associated with classical hemochromatosis (Hfe), suggesting that mutations in BMP6 might cause iron overload in humans with severe juvenile hemochromatosis for which the genetic basis has not yet been characterized.