NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study
Crossref DOI link: https://doi.org/10.1186/s12881-016-0273-7
Published Online: 2016-02-03
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Wen, Wei
Yin, Dan
Huang, Fangfang
Guo, Meng
Tian, Tian
Zhu, Hui
Yang, Yun
Funding for this research was provided by:
Shenzhen Technological Innovation Plan-Technology Development Project (CXZZ20130517144604091)