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Article

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

Human mutation - 1 Mar 2009

Engel Katharina, Höhne Wolfgang, Häberle Johannes

Abstract excerpt

Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency of ASS1 shows various clinical manifestations encompassing severely affected patients with fatal neonatal hyperammonemia as well as asymptomatic individuals with only a biochemical phenotype. This is a comprehensive report of all 87 mutations found to date...

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Source

Identifiers

PMID: 19006241
DOI: 10.1002/humu.20847

Genes

ASS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.PMID 19006241Read ↗

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