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Autor:
Mette Refstrup, Karin M. Hansen, Maja S. Petersen, Vibeke Blaabjerg, Viviana Ystaas, Rolf V. Andersen, Peter B. Nielsen
Publikováno v:
Gene. 507:79-84
Classical hereditary hemochromatosis involves the HFE -gene and diagnostic analysis of the DNA variants HFE p.C282Y (c.845G > A; rs1800562) and HFE p.H63D (c.187C > G; rs1799945). The affected protein alters the iron homeostasis resulting in iron ove