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Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany

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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.

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Authors and Affiliations

  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

    P. Jézéquel, M. Bargain, F. Lellouche, F. Geffroy & I. Dorval

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  1. P. Jézéquel
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  2. M. Bargain
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  3. F. Lellouche
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  4. F. Geffroy
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  5. I. Dorval
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Received: 25 May 1997 / Accepted: 19 November 1997

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Jézéquel, P., Bargain, M., Lellouche, F. et al. Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany. Hum Genet 102, 332–333 (1998). https://doi.org/10.1007/s004390050701

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  • DOI: https://doi.org/10.1007/s004390050701

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