1 results match your criteria: "Josep Carreras Leukemia Research Institute (IJC) Barcelona[Affiliation]"
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Mol Genet Genomic Med
May 2015
Cancer and Iron Group and Advanced Genetic Diagnostic Unit of Rare Iron Disorders (UDGAEMH), Institut of Predictive and Personalized Medicine of Cancer (IMPPC) Barcelona, Spain ; Diagnostics in Iron Metabolism Service (D·IRON) and Iron Metabolism: Regulation and Diseases group, Josep Carreras Leukemia Research Institute (IJC) Barcelona, Spain.
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 2 (TFR2) gene. Here, we describe three new HH type 3 Spanish families with four TFR2 mutations (p.Gly792Arg, c.
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