Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genet...

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Detalles Bibliográficos
Autores principales: Castro-Fernández, Cristina, Arias, Manuel, Blanco-Arias, Patricia, Santomé-Collazo, Luis, Amigo, Jorge, Carracedo, Ángel, Sobrido, Maria-Jesús
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745395/
https://www.ncbi.nlm.nih.gov/pubmed/26937357
http://dx.doi.org/10.1016/j.atg.2015.05.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745395/
https://www.ncbi.nlm.nih.gov/pubmed/26937357
http://dx.doi.org/10.1016/j.atg.2015.05.005

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