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Title: The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
Author(s): Riley, Lisa G.; Heeney, Matthew M.; Rudinger-Thirion, Joelle; Frugier, Magali; Campagna, Dean R.; Zhou, Ronghao; Simons, A. ; Schaap, N.P. ; Rodenburg, R.J. ; Kleefstra, T. ; Swinkels, D.W. ; Christodoulou, John; Fleming, Mark D.
Publication year: 2018
Source: Haematologica, vol. 103, iss. 12, (2018), pp. 2008-2015
ISSN: 0390-6078
DOI: https://doi.org/10.3324/haematol.2017.182659
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/199045   https://hdl.handle.net/2066/199045

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Subject: All institutes and research themes of the Radboud University Medical Center
Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences
Radboudumc 2: Cancer development and immune defence RIHS: Radboud Institute for Health Sciences
Radboudumc 2: Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences
Radboudumc 6: Mitochondrial diseases RIMLS: Radboud Institute for Molecular Life Sciences
Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Organization: Human Genetics
Haematology
Paediatrics
Laboratory Medicine
Journal title:
Haematologica
Volume: vol. 103
Issue: iss. 12
Page start: p. 2008
Page end: p. 2015

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