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

Kannengiesser, Caroline
Sanchez, Mayka
Sweeney, Marion
Hetet, Gilles
Kerr, Briedgeen
Moran, Erica
Fuster Soler, Jose L
Maloum, Karim
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Published in Haematologica. 2011, vol. 96, no. 6, p. 808-813
Abstract 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 defect in the X-linked 5-aminolevulinate synthase 2 gene but this is not always present. Recently, variations in the gene for the mitochondrial carrier SLC25A38 were reported to cause a non-syndromic, severe type of autosomal-recessive sideroblastic anemia. Further evaluation of the importance of this gene was required to estimate the proportion of patients affected and to gain further insight into the range and types of variations involved.
Keywords Amino Acid SequenceAmino Acid SubstitutionAnemia, Sideroblastic/geneticsChild, PreschoolExonsGenotypeHumansInfantInfant, NewbornMitochondrial Membrane Transport Proteins/chemistry/genetics/metabolismModels, MolecularMolecular Sequence DataMutation, Missense/geneticsProtein Structure, SecondarySequence Alignment
PMID: 21393332
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Research group Analyses cellulaires et moléculaires des hémopathies malignes (929)
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KANNENGIESSER, Caroline et al. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. In: Haematologica, 2011, vol. 96, n° 6, p. 808-813. doi: 10.3324/haematol.2010.039164 https://archive-ouverte.unige.ch/unige:79941

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Deposited on : 2016-01-22

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