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Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

Lookup NU author(s): Professor Rita Horvath

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Author(s): Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2012

Volume: 91

Issue: 4

Pages: 729-736

Print publication date: 27/09/2012

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2012.08.019

DOI: 10.1016/j.ajhg.2012.08.019


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