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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2014
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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 |