Haemochromatosis: an inherited metal and toxicity syndrome.

doi:10.1016/s0959-437x(98)80081-6

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Article

Haemochromatosis: an inherited metal and toxicity syndrome.

Current opinion in genetics & development - 1 Jun 1998

Cox T M, Kelly A L

Abstract excerpt

A newly-identified major histocompatibility Class I-like gene, HFE (originally HLA-H) located approximately 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 diagnosti...

Topics

Animals
HLA Antigens
Hemochromatosis
Hemochromatosis Protein
Histocompatibility Antigens Class I
Humans
Membrane Proteins
Metals, Heavy
Mutation
Receptors, Transferrin

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