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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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Veröffentlicht in:Proc Natl Acad Sci U S A
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2003
Schlagworte:
Biological Sciences
Online-Zugang: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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