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...
Váldodahkkit: | Rochette, J, Le Gac, G, Lassoued, K, Férec, C, Robson, K |
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Materiálatiipa: | Journal article |
Giella: | English |
Almmustuhtton: |
2010
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Geahča maid
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