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The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies

Leukoencephalopathies are diseases with high clinical heterogeneity. In clinical work, it’s difficult for doctors to make a definite etiological diagnosis. Here, we designed a custom probe library which contains the known pathogenic genes reported to be associated with Leukoencephalopathies, and per...

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Detalles Bibliográficos
Autores principales: Wang, Xiaole, He, Fang, Yin, Fei, Chen, Chao, Wu, Liwen, Yang, Lifen, Peng, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5078786/
https://www.ncbi.nlm.nih.gov/pubmed/27779215
http://dx.doi.org/10.1038/srep35936