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

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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Bibliographic Details
Main Authors: Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang
Format: Article
Language:English
Published: Wolters Kluwer 2018-01-01
Series:Chinese Medical Journal
Subjects:
BSCL2; Charcot-Marie-Tooth Disease; PMP2; SH3TC2
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=2;spage=151;epage=155;aulast=Zhao

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http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=2;spage=151;epage=155;aulast=Zhao

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