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 sequ...

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Detalles Bibliográficos
Autores principales: Hsiao, Cheng-Tsung, Tsai, Pei-Chien, Lin, Chou-Ching, Liu, Yo-Tsen, Huang, Yen-Hua, Liao, Yi-Chu, Huang, Han-Wei, Lin, Kon-Ping, Soong, Bing-Wen, Lee, Yi-Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729478/
https://www.ncbi.nlm.nih.gov/pubmed/26815532
http://dx.doi.org/10.1371/journal.pone.0147677

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729478/
https://www.ncbi.nlm.nih.gov/pubmed/26815532
http://dx.doi.org/10.1371/journal.pone.0147677

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