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

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...

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Bibliographic Details
Main Authors: Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Medical Genetics
Subjects:
Citrullinemia type I
ASS1
Novel variant
Mutation spectrum
Online Access:http://link.springer.com/article/10.1186/s12881-019-0836-5

Internet

http://link.springer.com/article/10.1186/s12881-019-0836-5

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