a novel n491s mutation in the human slc11a2 gene impairs protein trafficking and in association with the g212v mutation leads to microcytic anemia and liver iron overload：在人类slc11a2基因新突变损害n491s蛋白质运输和与g212v突变会导致小细胞性贫血和肝脏铁过载.pdfVIP

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a novel n491s mutation in the human slc11a2 gene impairs protein trafficking and in association with the g212v mutation leads to microcytic anemia and liver iron overload：在人类slc11a2基因新突变损害n491s蛋白质运输和与g212v突变会导致小细胞性贫血和肝脏铁过载.pdf

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a novel n491s mutation in the human slc11a2 gene impairs protein trafficking and in association with the g212v mutation leads to microcytic anemia and liver iron overload：在人类slc11a2基因新突变损害n491s蛋白质运输和与g212v突变会导致小细胞性贫血和肝脏铁过载

Blood Cells, Molecules, and Diseases 47 (2011) 243–248 Contents lists available at ScienceDirect Blood Cells, Molecules, and Diseases journal homepage: /locate/ybcmd A novel N491S mutation in the human SLC11A2 gene impairs protein trafﬁcking and in association with the G212V mutation leads to microcytic anemia and liver iron overload Edouard Bardou-Jacquet a,b, c, Marie-Laure Island a, Anne-Marie Jouanolle c, d, Lénaïck Détivaud a, c, Nadia Fatih a, Martine Ropert c, e, Eolia Brissot f, Annick Mosser c, d, Hervé Maisonneuve f, Pierre Brissot a,b, c, Olivier Loréal a, c,⁎ a Inserm U991, IFR140, University of Rennes 1, France b Liver Disease Department, University Hospital Pontchaillou, Rennes, France c French National Center for Rare Genetic Iron Overload Diseases, France d Molecular Genetic Department, University Hospital Pontchaillou, Rennes, France e Biochemical Department, University Hospital Pontchaillou, Rennes, France f Oncology and Hematology Department, La Roche-Sur-Yon Hospital, France a r t i c l e i n f o a b s t r a c t Article history: Background: DMT1 is a transmembrane iron transporter involved in iron duodenal absorption and cellular Submitted 30 March 2010 iron uptake. Mutations in the human SLC11A2 gene coding DMT1 lead to microcytic anemia and hepatic iron Revised 1 July 2011 overload, with unexpectedly low levels of plasma ferritin in the presence of iron stores. Available online 26 August 2011 Design and methods: We report a patient with a similar phenotype due to two mutations in the SLC11A2 gene,