Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis

Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. More than 50 causative genes have been identified. The lack of genotype-phenotype correlations in many CMT patients make it difficult to decide which genes are affected. Recently, targeted next-generation sequenci...

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Detalles Bibliográficos
Autores principales: Li, Li-Xi, Zhao, Shao-Yun, Liu, Zhi-Jun, Ni, Wang, Li, Hong-Fu, Xiao, Bao-Guo, Wu, Zhi-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053678/
https://www.ncbi.nlm.nih.gov/pubmed/27027447
http://dx.doi.org/10.18632/oncotarget.8377

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