Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review
Lin, Yiming; Gao, Hongzhi; Lu, Bin; Zhou, Shuang; Zheng, Tianwen; Lin, Weihua; Zhu, Lin; Jiang, Mengyi; Fu, Qingliu
- 期刊名称BMC Medical Genetics
- 作者Lin, Yiming; Gao, Hongzhi; Lu, Bin; Zhou, Shuang; Zheng, Tianwen; Lin, Weihua; Zhu, Lin; Jiang, Mengyi; Fu, Qingliu
- 卷第20卷
- 期第1期
- 电子ISSN1471-2350
- 文件大小847.07KB
- 发表时间2019-12
- DOI10.1186/s12881-019-0836-5