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: | , , , , |
---|---|
Formáid: | Journal article |
Teanga: | English |
Foilsithe / Cruthaithe: |
2010
|