Browsing Ciències de la Salut by Author "Vagace, José Manuel"

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    • Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3 

      Joshi, Ricky; Shvartsman, Maya; Morán, Erica; Lois, Sergi; Aranda, Jessica; Barqué, Anna; De la Cruz, Xavier; Bruguera, Miquel; Vagace, José Manuel; Gervasini, Guillermo; Sanz, Cristina; Sánchez, Mayka (Molecular Genetics & Genomic Medicine, 2015)
      Hereditary hemochromatosis (HH) type 3 is an autosomal recessive disorder of iron metabolism characterized by excessive iron deposition in the liver and caused by mutations in the transferrin receptor ...