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Article

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.

Human mutation - 1 Aug 2007

Caldovic Ljubica, Morizono Hiroki, Tuchman Mendel

Abstract excerpt

N-acetylglutamate synthase (NAGS) deficiency, an autosomal recessive disorder, is the last urea cycle disorder for which molecular testing became available. This is the first comprehensive report of 21 mutations that cause NAGS deficiency and of commonly found polymorphisms in the NAGS gene. Five mutations are reported here for the first time. A total of 10 disease-causing mutations are associated with acute...

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Source

Identifiers

PMID: 17421020
DOI: 10.1002/humu.20518

Genes

NAGS

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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