Article
Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1998
Mercier G, Burckel A, Bathelier C, Boillat E, Lucotte G
Abstract excerpt
Mutation analysis of the HLA-H gene in French hemochromatosis patients and genetic counseling in families: Genotype analysis of 61 hemochromatosis patients living in France and 126 controls confirms that the disease is strongly associated with homozygosity for the mutation C282Y of the HLA-H gene: in our sample 67.2% patients, and none of the controls, carry two copies of the C282Y mutation; the frequency of the...
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