Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA

In recent years, molecular genetics has been playing an increasing role in the diagnostic process of monogenic epilepsies. Knowing the genetic basis of one patient's epilepsy provides accurate genetic counseling and may guide therapeutic options. Genetic diagnosis of epilepsy syndromes has long...

Descripción completa

Detalles Bibliográficos
Autores principales: Dimassi, Sarra, Simonet, Thomas, Labalme, Audrey, Boutry-Kryza, Nadia, Campan-Fournier, Amandine, Lamy, Raphaelle, Bardel, Claire, Elsensohn, Mad-Hélénie, Roucher-Boulez, Florence, Chatron, Nicolas, Putoux, Audrey, de Bellescize, Julitta, Ville, Dorothée, Schaeffer, Laurent, Roy, Pascal, Mougou-Zerelli, Soumaya, Saad, Ali, Calender, Alain, Sanlaville, Damien, Lesca, Gaetan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803767/
https://www.ncbi.nlm.nih.gov/pubmed/27054081
http://dx.doi.org/10.1016/j.atg.2015.10.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803767/
https://www.ncbi.nlm.nih.gov/pubmed/27054081
http://dx.doi.org/10.1016/j.atg.2015.10.001

Ejemplares similares