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

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

Abstract 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, importa...

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Autores principales: Xiao Mao, Kai Li, Beisha Tang, Yang Luo, Dongxue Ding, Yuwen Zhao, Chunrong Wang, Xiaoting Zhou, Zhenhua Liu, Yuan Zhang, Puzhi Wang, Qian Xu, Qiying Sun, Kun Xia, Xinxiang Yan, Hong Jiang, Shen Lu, Jifeng Guo
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/2c9660dc723f4dc5a26d3e4f3edf3d8e
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