Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany |
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Authors: | P. Jézéquel M. Bargain F. Lellouche F. Geffroy I. Dorval |
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Affiliation: | (1) Laboratoire de Biochimie et de Biologie moléculaire, Centre Hospitalier Laennec, 14 ave. Yves Thépot, F-29107 Quimper Cedex, France Tel.: +33-2-98-526092, Fax: +33-2-98-526229, FR |
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Abstract: | Hereditary hemochromatosis (HH) gene mutations, C282Y and H63D, have been screened in a cohort of 254presumably healthy persons originating from a western region of France.The carrier frequencies of these mutations and the incidence of HH have been estimated and compared with those of other studies. This cohort contains two C282Y/C282Y genotypes and has the highest C282Y heterozygosity frequency (17.46%) ever reported. Received: 25 May 1997 / Accepted: 19 November 1997 |
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