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

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 have been i...

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Detalles Bibliográficos
Autores principales: Lin, Yiming, Gao, Hongzhi, Lu, Bin, Zhou, Shuang, Zheng, Tianwen, Lin, Weihua, Zhu, Lin, Jiang, Mengyi, Fu, Qingliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580464/
https://www.ncbi.nlm.nih.gov/pubmed/31208364
http://dx.doi.org/10.1186/s12881-019-0836-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580464/
https://www.ncbi.nlm.nih.gov/pubmed/31208364
http://dx.doi.org/10.1186/s12881-019-0836-5

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