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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: The National Academy of Sciences of the USA 1997
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC24956/
https://ncbi.nlm.nih.gov/pubmed/9356458
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