Haemochromatosis.
Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE, Loréal O.
Brissot P, et al.
Nat Rev Dis Primers. 2018 Apr 5;4:18016. doi: 10.1038/nrdp.2018.16.
Nat Rev Dis Primers. 2018.
PMID: 29620054
Free PMC article.
Review.
The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer. ...
The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes heredita …