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...
Príomhchruthaitheoirí: | Rochette, J, Le Gac, G, Lassoued, K, Férec, C, Robson, K |
---|---|
Formáid: | Journal article |
Teanga: | English |
Foilsithe / Cruthaithe: |
2010
|
Míreanna comhchosúla
Míreanna comhchosúla
-
Clinical haemochromatosis in HFE mutation carriers.
de réir: Cox, T, et al.
Foilsithe / Cruthaithe: (2002) -
HFE-Associated Hereditary Haemochromatosis
de réir: Emmeke J Eijkelkamp, et al.
Foilsithe / Cruthaithe: (2000-01-01) -
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
de réir: Merryweather-Clarke, A, et al.
Foilsithe / Cruthaithe: (2003) -
Identification of new ligands for the haemochromatosis protein HFE
de réir: Drakesmith, H, et al.
Foilsithe / Cruthaithe: (2007) -
Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience
de réir: Robson, K, et al.
Foilsithe / Cruthaithe: (2000)