Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

OBJECTIVE: To establish and evaluate the effectiveness of a comprehensive next-generation sequencing (NGS) approach to simultaneously analyze all genes known to be responsible for the most clinically and genetically heterogeneous neuromuscular diseases (NMDs) involving spinal motoneurons, neuromuscu...

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Detalles Bibliográficos
Autores principales: Tian, Xia, Liang, Wen-Chen, Feng, Yanming, Wang, Jing, Zhang, Victor Wei, Chou, Chih-Hung, Huang, Hsien-Da, Lam, Ching Wan, Hsu, Ya-Yun, Lin, Thy-Sheng, Chen, Wan-Tzu, Wong, Lee-Jun, Jong, Yuh-Jyh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807910/
https://www.ncbi.nlm.nih.gov/pubmed/27066551
http://dx.doi.org/10.1212/NXG.0000000000000015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807910/
https://www.ncbi.nlm.nih.gov/pubmed/27066551
http://dx.doi.org/10.1212/NXG.0000000000000015

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