Gerez Esther

Porphyria Cutanea Tarda and HFE Gene Mutations in Argentina

Colombo Federico, Martínez Javier, Varela Laura, Gerez Esther, Méndez Manuel, Batlle Alcira, V. Rossetti María & E. Parera Victoria · Journal of Advances in Medicine and Medical Research · 2013

Aims: Porphyria Cutanea Tarda (PCT), the most common of porphyrias is triggered by several factors, including iron overload. Type I Hereditary Hemochromatosis is inherited as an autosomal recessive trait of the mutation p.C282Y or as a compound heterozygous form p.C282Y/p.H63D in...