The hepcidin gene promoter nc.-1010C > T; -582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene

Hereditary hemochromatosis is an autosomal recessive disorder characterized by severe iron overload. It is usually associated with homozygosity for the HFE gene mutation c.845G > A; p.C282Y. However, in some cases, another HFE mutation (c.187C > G; p.H63D) seems to be associated with the disea...

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Detalhes bibliográficos
Autor principal: Silva, B. (author)
Outros Autores: Pita, L. (author), Gomes, S. (author), Gonçalves, J. (author), Faustino, P. (author)
Formato: article
Idioma:eng
Publicado em: 2015
Assuntos:
Texto completo:http://hdl.handle.net/10400.18/2982
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2982