Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

Kannengiesser, Caroline; Sánchez, Mayka; Sweeney, Marion; Hetet, Gilles; Kerr, Briedgeen; L. Moran, Erica; L. Fuster Soler, J.; Maloum, Karim; Matthes, Thomas; Oudot, Caroline; Lascaux, Anne‐Sophie; Pondarré, Corinne; Sevilla Navarro, J.; Vidyatilake, Sudharma; Beaumont, C.; Grandchamp, Bernard; May, Alison

doi:10.3324/haematol.2010.039164

Public

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

Published in Haematologica • Mar 10, 2011

Authors:

Caroline Kannengiesser

Mayka Sánchez

Marion Sweeney

Abstract

BACKGROUND: Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome. The most common cause of non-syndromic, microcytic sideroblastic anemia is a d...

Subject

Sideroblastic anemia

Missense mutation

Genetics

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