Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

BACKGROUND: Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atro...

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Bibliografski detalji
Izdano u:PLoS One
Glavni autori: Liao, Yi-Chu, Liu, Yo-Tsen, Tsai, Pei-Chien, Chang, Chia-Ching, Huang, Yen-Hua, Soong, Bing-Wen, Lee, Yi-Chung
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2015
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4526224/
https://ncbi.nlm.nih.gov/pubmed/26244500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0133423
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