Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country.
Ann Hematol
; 84(2): 99-102, 2005 Feb.
Article
em En
| MEDLINE
| ID: mdl-15503019
ABSTRACT
The distribution of HFE mutations was studied in patients from the French Basque Country with hereditary hemochromatosis (HH). The C282Y mutation was underrepresented but H63D seemed to demonstrate the highest prevalence when compared with other European countries. In addition, symptomatic HH was rarer in autochthonous Basques. This profile is interesting to consider in view of population genetics and should be associated with the search for non-HFE mutations.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Mutação de Sentido Incorreto
/
Hemocromatose
Tipo de estudo:
Prevalence_studies
/
Risk_factors_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Ann Hematol
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
França