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Article

Citrullinaemia type I: a common mutation in the Pacific Island population.

Journal of paediatrics and child health - 1 May 2011

Glamuzina Emma, Marquis-Nicholson Renate, Knoll Detlef, Love Donald R, Wilson Callum

Abstract excerpt

AIM: The aim of this study was to develop and apply a mutation screening protocol for the ASS1 gene in order to confirm the diagnosis of citrullinaemia type I in neonates with elevated citrulline on expanded newborn screening (E-NBS). METHODS: Three patients with an elevated citrulline level were...

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Source

Identifiers

PMID: 21244552
DOI: 10.1111/j.1440-1754.2010.01948.x

Genes

ASS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21244552-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Citrullinaemia type I: a common mutation in the Pacific Island population.PMID 21244552Read ↗

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

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Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.Semantic proximity Read ↗

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