Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines-Reference-Cited by-同舟云学术

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

Published:2017-05-09 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

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^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-01637-z.pdf

Reference28 articles.

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4. Lee, H. et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312, 1880–1887 (2014).

5. Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870–1879 (2014).

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