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Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

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
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