Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations

Citrullinemia type 1 is an autosomal recessive metabolic disease caused by ASS1 gene mutations encoding argininosuccinic acid synthetase enzyme which is within the pathway of arginine and nitric oxide biosynthesis. Disease confirmation was done by ASS1 gene mutation analysis using next‐generation se...

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Detalles Bibliográficos
Autores principales: Moarefian, Shirin, Zamani, Mahdi, Rahmanifar, Ali, Behnam, Babak, Zaman, Talieh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995839/
https://www.ncbi.nlm.nih.gov/pubmed/35433176
http://dx.doi.org/10.1002/jmd2.12277

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995839/
https://www.ncbi.nlm.nih.gov/pubmed/35433176
http://dx.doi.org/10.1002/jmd2.12277

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