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Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease

Over 70 different Charcot-Marie-Tooth disease (CMT)–associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient. Next-generation sequencing (NGS) technology allows cost-effect...

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Detalles Bibliográficos
Autor principal: Verma, Ashok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251009/
https://www.ncbi.nlm.nih.gov/pubmed/25506157
http://dx.doi.org/10.4103/0972-2327.144004