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- W2052581103 abstract "A newly-identified major histocompatibility Class I-like gene, HFE (originally HLA-H) located ≈3.5 Mb telomeric to the Class I cluster on chromosome 6p 21.3 harbours mutations in haemochromatosis. Two of these, Cys282Tyr (C282Y) and His63Asp (H63D, a minor determinant) have diagnostic utility as ≈90% of adults are homozygous or compound heterozygotes for these alleles. The pathophysiological role of HFE is unclear: it is expressed as a surface molecule on many cells and the C282Y mutation disrupts interactions with β2-microglobulin, thus preventing surface expression. Lately, there has been experimental evidence that HFE protein interacts with the transferrin-receptor, affecting receptor turnover or its affinity for ligand." @default.
- W2052581103 created "2016-06-24" @default.
- W2052581103 creator A5040259881 @default.
- W2052581103 creator A5080995646 @default.
- W2052581103 date "1998-06-01" @default.
- W2052581103 modified "2023-10-18" @default.
- W2052581103 title "Haemochromatosis: an inherited metal and toxicity syndrome" @default.
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- W2052581103 doi "https://doi.org/10.1016/s0959-437x(98)80081-6" @default.
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