Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.

BACKGROUND:A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. METHODOLOGY AND PRINCIPAL FINDINGS:Utilizing targeted sequen...

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Main Authors: Cheng-Tsung Hsiao, Pei-Chien Tsai, Chou-Ching Lin, Yo-Tsen Liu, Yen-Hua Huang, Yi-Chu Liao, Han-Wei Huang, Kon-Ping Lin, Bing-Wen Soong, Yi-Chung Lee
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4729478?pdf=render