Browsing Ciències de la Salut by Subject "Gen TFR2"

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    • New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis 

      Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica; Musri, Melina; Floor Pilquil, Martin; Muñoz Torres, Pau Marc; Hernandez Rodríguez, Ines; Ruiz Mínguez, Maria Àngels; Kelleher, Nicholas J.; Pelucchi, Sara; Piperno, Alberto; Plensa Alberca, Esther; Gener Ricós, Georgina; Cañamero Giró, Eloi; Pérez-Montero, Santiago; Tornador, Cristian; Villà-Freixa, Jordi; Sánchez, Mayka (Genes, 2021)
      Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by ...