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References

These sources were used to develop the Genetics Home Reference gene summary on the NAGS gene.

Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M. Cloning and expression of the human N-acetylglutamate synthase gene. Biochem Biophys Res Commun. 2002 Dec 13;299(4):581-6. PubMed citation
Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet. 2003 Apr;112(4):364-8. Epub 2003 Feb 20. PubMed citation
Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M. Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. Hum Mutat. 2005 Mar;25(3):293-8. PubMed citation
Caldovic L, Tuchman M. N-acetylglutamate and its changing role through evolution. Biochem J. 2003 Jun 1;372(Pt 2):279-90. Review. PubMed citation
Entrez Gene
Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG. Mutation analysis in patients with N-acetylglutamate synthase deficiency. Hum Mutat. 2003 Jun;21(6):593-7. PubMed citation
Morizono H, Caldovic L, Shi D, Tuchman M. Mammalian N-acetylglutamate synthase. Mol Genet Metab. 2004 Apr;81 Suppl 1:S4-11. Review. PubMed citation
OMIM: N-ACETYLGLUTAMATE SYNTHASE
Schmidt E, Nuoffer JM, Häberle J, Pauli S, Guffon N, Vianey-Saban C, Wermuth B, Koch HG. Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochim Biophys Acta. 2005 Apr 15;1740(1):54-9. Epub 2005 Feb 24. PubMed citation


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