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

Pub. Date : 2022 May

PMID : 35433176






1 Functional Relationships(s)
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1 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. Arginine argininosuccinate synthase 1 Homo sapiens