Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

Haemochromatosis is predominantly associated with the HFE p.C282Y homozygous genotype, which is present in approximately 1 in 200 people of Northern European origin. However, not all p.C282Y homozygotes develop clinical features of haemochromatosis, and not all p.C282Y homozygotes even present abnor...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron: Rochette, J, Le Gac, G, Lassoued, K, Férec, C, Robson, K
Fformat: Journal article
Iaith:English
Cyhoeddwyd: 2010