Article
Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.
Proceedings of the National Academy of Sciences of the United States of America - 6 Aug 2002
Fleming Robert E, Ahmann John R, Migas Mary C, Waheed Abdul, Koeffler H Phillip, Kawabata Hiroshi, Britton Robert S, Bacon Bruce R, Sly William S
Abstract excerpt
Hereditary hemochromatosis (HH) is a common genetic disorder characterized by excess absorption of dietary iron and progressive iron deposition in several tissues, particularly liver. The vast majority of individuals with HH are homozygous for mutations in the HFE gene. Recently a second transferrin receptor (TFR2) was discovered, and a previously uncharacterized type of hemochromatosis (HH type 3) was identified...
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