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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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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The National Academy of Sciences of the USA
1997
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC24956/ https://ncbi.nlm.nih.gov/pubmed/9356458 |
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