Article
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
Proceedings of the National Academy of Sciences of the United States of America - 11 Nov 1997
Waheed A, Parkkila S, Zhou X Y, Tomatsu S, Tsuchihashi Z, Feder J N, Schatzman R C, Britton R S, Bacon B R, Sly W S
Abstract excerpt
Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder known in humans. A candidate gene for HH called HFE has recently been cloned that encodes a novel member of the major histocompatibility complex class I family. Most HH patients are homozygous for a Cys-282-->Tyr (C28...
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