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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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Published in:Proc Natl Acad Sci U S A
Main Authors: 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
Language:Inglês
Published: National Academy of Sciences 2003
Subjects:
Biological Sciences
Online Access: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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