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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Bibliografische gegevens
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2003
Onderwerpen:
Biological Sciences
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC307646/
https://ncbi.nlm.nih.gov/pubmed/14673107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2237037100
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