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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Hlavní autoři: Lin, Kon-Ping, Soong, Bing-Wen, Yang, Chih-Chao, Huang, Li-Wen, Chang, Ming-Hong, Lee, I-Hui, Antonellis, Antony, Lee, Yi-Chung
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2011
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3242783/
https://ncbi.nlm.nih.gov/pubmed/22206013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0029393
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