Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines

Whole-exome sequencing (WES), one of the next-generation sequencing (NGS), has become a powerful tool to identify exonic variants. Investigating causality of the sequence variants in human disease becomes an important part in NGS for the research and clinical applications. Recently, important guidel...

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Detalles Bibliográficos
Autores principales: Mao, Xiao, Li, Kai, Tang, Beisha, Luo, Yang, Ding, Dongxue, Zhao, Yuwen, Wang, Chunrong, Zhou, Xiaoting, Liu, Zhenhua, Zhang, Yuan, Wang, Puzhi, Xu, Qian, Sun, Qiying, Xia, Kun, Yan, Xinxiang, Jiang, Hong, Lu, Shen, Guo, Jifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431663/
https://www.ncbi.nlm.nih.gov/pubmed/28487569
http://dx.doi.org/10.1038/s41598-017-01637-z

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