Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

OBJECTIVE: To investigate the effectiveness of targeted next-generation sequencing (NGS) panels in achieving a molecular diagnosis in Charcot-Marie-Tooth disease (CMT) and related disorders in a clinical setting. METHODS: We prospectively enrolled 220 patients from 2 tertiary referral centers, one i...

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Detalles Bibliográficos
Autores principales: Cortese, Andrea, Wilcox, Janel E., Polke, James M., Poh, Roy, Skorupinska, Mariola, Rossor, Alexander M., Laura, Matilde, Tomaselli, Pedro J., Houlden, Henry, Shy, Michael E., Reilly, Mary M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011687/
https://www.ncbi.nlm.nih.gov/pubmed/31827005
http://dx.doi.org/10.1212/WNL.0000000000008672

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