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...
Main Authors: | Rochette, J, Le Gac, G, Lassoued, K, Férec, C, Robson, K |
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פורמט: | Journal article |
שפה: | English |
יצא לאור: |
2010
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פריטים דומים
-
Clinical haemochromatosis in HFE mutation carriers.
מאת: Cox, T, et al.
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HFE-Associated Hereditary Haemochromatosis
מאת: Emmeke J Eijkelkamp, et al.
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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
מאת: Merryweather-Clarke, A, et al.
יצא לאור: (2003) -
Identification of new ligands for the haemochromatosis protein HFE
מאת: Drakesmith, H, et al.
יצא לאור: (2007) -
Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience
מאת: Robson, K, et al.
יצא לאור: (2000)