A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Liao, Yi-Chu, Liu, Yo-Tsen, Tsai, Pei-Chien, Chang, Chia-Ching, Huang, Yen-Hua, Soong, Bing-Wen, Lee, Yi-Chung
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!