NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

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Bibliographic Details
Title:	NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Authors:	Wei Wen¹, Dan Yin^2,3, Fangfang Huang¹, Meng Guo¹, Tian Tian^2,3, Hui Zhu^2,3, Yun Yang^2,3,4 yangyun@genomics.cn
Source:	BMC Medical Genetics. 2/3/2016, Vol. 17, p1-5. 5p.
Database:	Academic Search Ultimate

Description
ISSN:	14712350
DOI:	10.1186/s12881-016-0273-7