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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הוצא לאור ב:	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.
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	National Academy of Sciences 2003
נושאים:	Biological Sciences
גישה מקוונת:	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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