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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Vydáno v:Proc Natl Acad Sci U S A
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2003
Témata:
Biological Sciences
On-line přístup: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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