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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Bibliographic Details
Main Authors:	Behnam, B. (Author), Moarefian, S. (Author), Rahmanifar, A. (Author), Zaman, T. (Author), Zamani, M. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2022
Subjects:	adult amniocentesis arginine Article ASS1 citrulline citrullinemia citrullinemia type 1 clinical clinical article clinical outcome DNA extraction female frameshift mutation gene frequency gene mutation genetic analysis genetic association genotype high performance liquid chromatography homozygosity human hyperammonemia Iran male mass spectrometry metabolic disorder metabolic regulation missense mutation mutational analysis nonsense mutation novel mutation outcome peritoneal dialysis polymerase chain reaction prevalence retrospective study Sanger sequencing seizure spectrophotometry thin layer chromatography urea cycle disorder whole exome sequencing
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Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations

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