Article
Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).
British journal of haematology - 1 Mar 2000
Rivard S R, Mura C, Simard H, Simard R, Grimard D, Le Gac G, Raguenes O, Férec C, De Braekeleer M
Abstract excerpt
A mutation analysis of the HFE gene followed, when applicable, by sequencing was performed on 47 patients with hereditary haemochromatosis (HH) living in Saguenay-Lac-Saint-Jean. The C282Y and H63D mutations were present on 50% and 20.3% of the HH chromosomes respectively. These frequencies were very different from those found in other populations and could be, at least partially, the result of a founder effect....
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