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authFullName_s : Dean Campagna

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Lisa Riley , Joëlle Rudinger-Thirion , Klaus Schmitz-Abe , David Thorburn , Ryan Davis et al.
JIMD Reports, Volume 28 pp 49-57, pp.49-57, 2015, ⟨10.1007/8904_2015_515⟩
Book sections hal-02294515v1

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

Lisa Riley , Matthew Heeney , Joëlle Rudinger-Thirion , Magali Frugier , Dean Campagna et al.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1