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Article

Molecular genetics of citrullinemia types I and II.

Clinica chimica acta; international journal of clinical chemistry - 20 Apr 2014

Woo Hye In, Park Hyung-Doo, Lee Yong-Wha

Abstract excerpt

Over the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia types I and II, have been identified, and numerous mutations in these genes have been reported. The clinical manifestations of citrullinemia are quite heterogeneous, and most studies have reported mutations in a small number of patients from a few families. Comprehensive integration of previous knowledge is important to...

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Source

Identifiers

PMID: 24508627
DOI: 10.1016/j.cca.2014.01.032

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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