Article
HLA-H mutations in the Ashkenazi Jewish population.
Blood cells, molecules & diseases - 1 Jan 1997
Beutler E, Gelbart T
Abstract excerpt
Hereditary hemochromatosis is a common disorder in people of European origin. The HLA-H gene has been found to have two mutations that apparently cause hemochromatosis. The principal mutation, 845G-->A (C282Y), is believed to have arisen relatively recently in the Celtic population. To determine the incidence of this mutation and the other hemochromatosis-associated mutation, 187C-->G (H63D), among Ashkenazi...
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