Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

Background: Citrullinemia type I (CTLN1) is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the gene encoding the arginosuccinate synthetase (ASS1) enzyme. Classic CTLN1 often manifests with acute hyperammonemia and neurological symptoms. Molecular genetic testing is...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Jing, Wang, Zhongjie, Yan, Huiming, Teng, Yanling, Shi, Qingxin, Chen, Jing, Tang, Wanglan, Yu, Wenxian, Peng, Ying, Xi, Hui, Ma, Na, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360398/
https://www.ncbi.nlm.nih.gov/pubmed/37485339
http://dx.doi.org/10.3389/fgene.2023.1172947

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360398/
https://www.ncbi.nlm.nih.gov/pubmed/37485339
http://dx.doi.org/10.3389/fgene.2023.1172947

Ejemplares similares