Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

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Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh MJ, Santibanez-Koref M, Chinnery PF, Horvath R

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

Brain. 2013 Feb;136(Pt 2):e228. doi: 10.1093/brain/aws197. Epub 2012 Sep 24.

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23008233 [ View in PubMed
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Polypeptides
NameUniProt ID
Probable glutamate--tRNA ligase, mitochondrialQ5JPH6Details