The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

BACKGROUND: Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous group of inherited axonal neuropathies. The aim of this study was to extensively investigate the mutational spectrum of CMT2 in a cohort of patients of Han Chinese. METHODOLOGY AND PRINCIPAL FINDINGS:...

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Detalles Bibliográficos
Autores principales: Lin, Kon-Ping, Soong, Bing-Wen, Yang, Chih-Chao, Huang, Li-Wen, Chang, Ming-Hong, Lee, I-Hui, Antonellis, Antony, Lee, Yi-Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3242783/
https://www.ncbi.nlm.nih.gov/pubmed/22206013
http://dx.doi.org/10.1371/journal.pone.0029393

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