UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.

Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. For many affected patients, the genetic cause remains undetermined. Through whole-exome sequencing, we identified compound heterozygous mutations in ubiquitin-like modifier activati...

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Bibliographic Details
Main Authors: Ranhui Duan, Yuting Shi, Li Yu, Gehan Zhang, Jia Li, Yunting Lin, Jifeng Guo, Junling Wang, Lu Shen, Hong Jiang, Guanghui Wang, Beisha Tang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4752235?pdf=render

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http://europepmc.org/articles/PMC4752235?pdf=render

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