Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

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...

書誌詳細
主要な著者:	Rochette, J, Le Gac, G, Lassoued, K, Férec, C, Robson, K
フォーマット:	Journal article
言語:	English
出版事項:	2010

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