Article
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
The Journal of biological chemistry - 30 May 1997
Feder J N, Tsuchihashi Z, Irrinki A, Lee V K, Mapa F A, Morikang E, Prass C E, Starnes S M, Wolff R K, Parkkila S, Sly W S, Schatzman R C
Abstract excerpt
We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis (HH), called HLA-H, which is a novel member of the major histocompatibility complex class I family. A mutation in this gene, cysteine 282 --> tyrosine (C282Y), was found to be present in 83% of HH patient DNAs, while a second variant, histidine 63 --> aspartate (H63D), was enriched in patients heterozygous for C282Y....
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