Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing
Author:
Publisher
Korean Society for Molecular and Cellular Biology
Subject
Cell Biology,Molecular Biology,General Medicine
Link
http://ocean.kisti.re.kr/downfile/crosscheck/ksmcb/JAKO201616553236786.pdf
Reference25 articles.
1. Connexin32 and X-linked Charcot–Marie–Tooth Disease
2. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease
3. A cohort study ofMFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients
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