Article
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
American journal of human genetics - 1 Apr 1997
Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino M A, Piperno A, Girelli D, Roetto A, Franco B, Gasparini P, Camaschella C
Abstract excerpt
Hemochromatosis (HH) is an inborn error of iron metabolism, frequent among Caucasians, characterized by progressive iron loading that, if untreated, causes high morbidity and death. HLA-H, a putative HH gene, has recently been isolated. The large majority of patients so far studied are homozygous for a single mutation, which results in a cysteine-to-tyrosine substitution at amino acid 282 of the protein. A...
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