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

Scientific reports - 9 May 2017

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

Abstract excerpt

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 guidelines on them have been published and will keep on updating. In our study, two Chinese families, with the clinical...

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Autistic Disorder
Base Sequence
Child, Preschool
Exome Sequencing
Guidelines as Topic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Purine-Pyrimidine Metabolism, Inborn Errors

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PMID: 28487569
DOI: 10.1038/s41598-017-01637-z
PMCID: PMC5431663

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ADSL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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