Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

A candidate gene for hereditary haemochromatosis, HLA-H, has recently been presented. Two missense mutations in the HLA-H gene sequence are predicted to account for nearly 90% of all cases of the disease. The aim of this study was to correlate the presence of these missense mutations with the expres...

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Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Rhodes, D A, Raha-Chowdhury, R, Cox, T M, Trowsdale, J
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1997
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051063/
https://ncbi.nlm.nih.gov/pubmed/9321765
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