Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive. Thus, more efficient and less costly methods are needed in clinical di...

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Detalles Bibliográficos
Autores principales: Høyer, Helle, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L., Svendsen, Marit, Hilmarsen, Hilde T., Strand, Linda, Skjelbred, Camilla F., Russell, Michael B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082881/
https://www.ncbi.nlm.nih.gov/pubmed/25025039
http://dx.doi.org/10.1155/2014/210401

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