Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited neuropathies. The GJB1 gene is the pathogenic gene of CMTX1. In this study, we screened a cohort of 465 unrelated Chinese CMT patients from years 2007 to 2019 and 650 controls by direct Sanger sequenci...

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Detalles Bibliográficos
Autores principales: Liu, Xiaoxuan, Duan, Xiaohui, Zhang, Yingshuang, Sun, Aping, Fan, Dongsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438869/
https://www.ncbi.nlm.nih.gov/pubmed/32903794
http://dx.doi.org/10.3389/fneur.2020.00690

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438869/
https://www.ncbi.nlm.nih.gov/pubmed/32903794
http://dx.doi.org/10.3389/fneur.2020.00690

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