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

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...

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Autors principals: Kannengiesser, Caroline, Sanchez, 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
Format: Artigo
Idioma:Inglês
Publicat: Ferrata Storti Foundation 2011
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3105641/
https://ncbi.nlm.nih.gov/pubmed/21393332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2010.039164
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