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Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis

Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by iron accumulation in several organs, followed by organ damage and failure. The C282Y mutation in the HFE gene explains 80-90% of all diagnosed cases of HH in populations of northwestern European ancestry. Targeted dis...

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Detalles Bibliográficos
Publicado en:Proc Natl Acad Sci U S A
Principais autores: Tomatsu, Shunji, Orii, Koji O., Fleming, Robert E., Holden, Christopher C., Waheed, Abdul, Britton, Robert S., Gutierrez, Monica A., Velez-Castrillon, Susana, Bacon, Bruce R., Sly, William S.
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 2003
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Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC307646/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/14673107/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.2237037100
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