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...
Κύριοι συγγραφείς: | Rochette, J, Le Gac, G, Lassoued, K, Férec, C, Robson, K |
---|---|
Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2010
|
Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
-
Clinical haemochromatosis in HFE mutation carriers.
ανά: Cox, T, κ.ά.
Έκδοση: (2002) -
HFE-Associated Hereditary Haemochromatosis
ανά: Emmeke J Eijkelkamp, κ.ά.
Έκδοση: (2000-01-01) -
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
ανά: Merryweather-Clarke, A, κ.ά.
Έκδοση: (2003) -
Identification of new ligands for the haemochromatosis protein HFE
ανά: Drakesmith, H, κ.ά.
Έκδοση: (2007) -
Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience
ανά: Robson, K, κ.ά.
Έκδοση: (2000)