由一种新的纯合EARS2突变引起的多系统致命性婴儿疾病。 - Suppr

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

作者信息

Talim Beril, Pyle Angela, Griffin Helen, Topaloglu Haluk, Tokatli Aysegul, Keogh Michael J, Santibanez-Koref Mauro, Chinnery Patrick F, Horvath Rita

出版信息

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

DOI:10.1093/brain/aws197

PMID:23008233

Abstract

摘要

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

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