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2018

Riley L G, Heeney M M, Rudinger-Thirion J, Frugier M, Campagna D R, Zhou R, Hale G A, Hilliard L M, Kaplan J A, Kwiatkowski J L, Sieff C A, Steensma D P, Rennings A J, Simons A, Schaap N, Roodenburg R J, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga R Y, Bottomley S S, Sanchez M, Swinkels D W, Christodoulou J, Fleming M D

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 Article de journal

Dans: Haematologica, vol. 103, no. 12, p. 2008-2015, 2018, ISBN: 30026338.

Résumé | Liens | BibTeX | Étiquettes: Congenital sideroblastic anemia MLASA YARS2 mitochondrial myopathy sideroblastic anemia, FRUGIER, Unité ARN