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Article

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.

Molecular genetics & genomic medicine - 1 Feb 2023

Daou Melissa, Souaid Mirna, Yammine Tony, Khneisser Issam, Mansour Hicham, Salem Nabiha, Nemr Antony, Awwad Johnny, Moukarzel Adib, Farra Chantal

Abstract excerpt

BACKGROUND: Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or "classic" form to a milder, late-onset, or "unconventional" form. To date, more than 93 variants in the ASS1 gene located on chromosome 9q43.11 (OMIM #215700) are reportedly responsible for CTLN1. Their incidence and distribution...

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Identifiers

PMID: 36680390
DOI: 10.1002/mgg3.2058
PMCID: PMC9938749

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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