Mutation Analysis of Gap Junction Protein Beta 1 and Genotype–Phenotype Correlation in X-linked Charcot–Marie–Tooth Disease in Chinese Patients

BACKGROUND: Among patients with Charcot–Marie–Tooth disease (CMT), the X-linked variant (CMTX) caused by gap junction protein beta 1 (GJB1) gene mutation is the second most frequent type, accounting for approximately 90% of all CMTX. More than 400 mutations have been identified in the GJB1 gene that...

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Detalles Bibliográficos
Autores principales: Sun, Bo, Chen, Zhao-Hui, Ling, Li, Li, Yi-Fan, Liu, Li-Zhi, Yang, Fei, Huang, Xu-Sheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852665/
https://www.ncbi.nlm.nih.gov/pubmed/27098783
http://dx.doi.org/10.4103/0366-6999.180511

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852665/
https://www.ncbi.nlm.nih.gov/pubmed/27098783
http://dx.doi.org/10.4103/0366-6999.180511

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