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Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β(2)-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder known in humans. A candidate gene for HH called HFE has recently been cloned that encodes a novel member of the major histocompatibility complex class I family. Most HH patients are homozygous for a Cys-282→Tyr (C282Y) m...

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Publicado no:Proc Natl Acad Sci U S A
Principais autores: Waheed, Abdul, Parkkila, Seppo, Zhou, Xiao Yan, Tomatsu, Shunji, Tsuchihashi, Zenta, Feder, John N., Schatzman, Randall C., Britton, Robert S., Bacon, Bruce R., Sly, William S.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1997
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC24956/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9356458/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.94.23.12384
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