Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

BACKGROUND: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims t...

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Detalles Bibliográficos
Autores principales: Zhao, Xin, Jiang, Ming-Ming, Yan, Yi-Zhou, Liu, Lei, Xie, Yong-Zhi, Li, Xiao-Bo, Hu, Zheng-Mao, Zi, Xiao-Hong, Xia, Kun, Tang, Bei-Sha, Zhang, Ru-Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776844/
https://www.ncbi.nlm.nih.gov/pubmed/29336362
http://dx.doi.org/10.4103/0366-6999.222331

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776844/
https://www.ncbi.nlm.nih.gov/pubmed/29336362
http://dx.doi.org/10.4103/0366-6999.222331

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