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

• Үндсэн зохиолчид: Yiming Lin (Зохиогч), Hongzhi Gao (Зохиогч), Bin Lu (Зохиогч), Shuang Zhou (Зохиогч), Tianwen Zheng (Зохиогч), Weihua Lin (Зохиогч), Lin Zhu (Зохиогч), Mengyi Jiang (Зохиогч), Qingliu Fu (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2019-06-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...