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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
Publicado en:Ann Indian Acad Neurol
Autor principal: Verma, Ashok
Formato: Artigo
Lenguaje:Inglês
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4251009/
https://ncbi.nlm.nih.gov/pubmed/25506157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.144004
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