Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

OBJECTIVE: To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs). METHODS: We performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted a...

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Detalles Bibliográficos
Autores principales: Haskell, Gloria T., Adams, Michael C., Fan, Zheng, Amin, Krunal, Guzman Badillo, Roberto J., Zhou, Linran, Bizon, Christopher, Chahin, Nizar, Greenwood, Robert S., Milko, Laura V., Shiloh-Malawsky, Yael, Crooks, Kristy R., Strande, Natasha, Tennison, Michael, Tilley, Christian R., Brandt, Alicia, Wilhelmsen, Kirk C., Weck, Karen, Evans, James P., Berg, Jonathan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798313/
https://www.ncbi.nlm.nih.gov/pubmed/29417091
http://dx.doi.org/10.1212/NXG.0000000000000212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798313/
https://www.ncbi.nlm.nih.gov/pubmed/29417091
http://dx.doi.org/10.1212/NXG.0000000000000212

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