Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

PURPOSE: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order...

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Detalles Bibliográficos
Autores principales: Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, Bonello-Palot, Nathalie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224714/
https://www.ncbi.nlm.nih.gov/pubmed/30373780
http://dx.doi.org/10.1136/bmjopen-2018-021632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224714/
https://www.ncbi.nlm.nih.gov/pubmed/30373780
http://dx.doi.org/10.1136/bmjopen-2018-021632

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