Hereditary Hemochromatosis: Effects of C282Y and H63D Mutations on Association with β2-microglobulin...
Hereditary Hemochromatosis: Effects of C282Y and H63D Mutations on Association with β2-microglobulin, Intracellular Processing, and Cell Surface Expression of the HFE Protein in COS-7 Cells
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Publisher
National Academy of Sciences of the United States of America
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Language
English
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Publisher
National Academy of Sciences of the United States of America
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Contents
Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder known in humans. A candidate gene for HH called HFF 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) mutation in HFE gene, which has been shown to disr...
Alternative Titles
Full title
Hereditary Hemochromatosis: Effects of C282Y and H63D Mutations on Association with β2-microglobulin, Intracellular Processing, and Cell Surface Expression of the HFE Protein in COS-7 Cells
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_24956
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_24956
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.94.23.12384
