Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

Haemochromatosis (HH) is a clinically and genetically heterogeneous disease caused by inappropriate iron absorption. Most HH patients are homozygous for the C282Y mutation in the HFE gene. However, penetrance of the C282Y mutation is incomplete, and other genetic factors may well affect the HH pheno...

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Bibliografische gegevens
Hoofdauteurs: Merryweather-Clarke, A, Cadet, E, Bomford, A, Capron, D, Viprakasit, V, Miller, A, McHugh, P, Chapman, R, Pointon, J, Wimhurst, V, Livesey, K, Tanphaichitr, V, Rochette, J, Robson, K
Formaat: Journal article
Taal:English
Gepubliceerd in: 2003

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