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Multisystem fatal infantile disease caused by a novel homozygous EARS₂ mutation

Lookup NU author(s): Dr Angela Pyle, Dr Helen GriffinORCiD, Dr Michael Keogh, Dr Mauro Santibanez Koref, Professor Patrick Chinnery, Professor Rita HorvathORCiD

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Author(s): Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh MJ, Santibanez-Koref M, Chinnery PF, Horvath R

Publication type: Letter

Publication status: Published

Journal: Brain

Year: 2013

Volume: 136

Issue: 2

Print publication date: 24/09/2012

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: OXFORD UNIV PRESS

URL: http://dx.doi.org/10.1093/brain/aws197

DOI: 10.1093/brain/aws197

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