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Article

Identification of three novel mutations in fourteen patients with citrullinemia type 1.

Clinical biochemistry - 1 Aug 2017

Kose Engin, Unal Ozlem, Bulbul Selda, Gunduz Mehmet, Häberle Johannes, Arslan Nur

Abstract excerpt

OBJECTIVES: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1. DESIGN & METHODS: The study group consisted of 14 patients (4 females, 10 males) diagnosed with...

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Source

Identifiers

PMID: 28132756
DOI: 10.1016/j.clinbiochem.2017.01.011

Genes

ASS1

Variants

Provenance

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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