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

• Ngā kaituhi matua: Yiming Lin (Author), Hongzhi Gao (Author), Bin Lu (Author), Shuang Zhou (Author), Tianwen Zheng (Author), Weihua Lin (Author), Lin Zhu (Author), Mengyi Jiang (Author), Qingliu Fu (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2019-06-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Abstract Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene. Only a few Chinese patients with CTLN1 have been reported, and ASS1 gene mutations hav...