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

Pub. Date : 2019 Jun 17

PMID : 31208364






2 Functional Relationships(s)
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1 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. Urea argininosuccinate synthase 1 Homo sapiens
2 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. Urea argininosuccinate synthase 1 Homo sapiens