Browsing by Subject 

Browsing by Subject "SLC25A38"

Now showing items 1-1 of 1

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

      Kannengiesser, Caroline; Sanchez-Fernandez, Mayka; Sweeney, Marion; Hetet, Gilles; Kerr, Briedgeen; Moran, Erica; Fuster Soler, Jose L.; Maloum, Karim; Matthes, Thomas; OUDOT, Caroline; Lascaux, Axelle; Pondarré, Corinne; Sevilla Navarro, Julian; Vidyatilake, Sudharma; Beaumont, Carole; grandchamp, bernard; May, Alison (Haematologica, 2011)
      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 ...