Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study.

doi:10.1038/srep36999

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Article

Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study.

Scientific reports - 11 Nov 2016

Moonen Rob M, Cavallaro Giacomo, Huizing Maurice J, González-Luis Gema E, Mosca Fabio, Villamor Eduardo

Abstract excerpt

The p.Thr1406Asn (rs1047891) polymorphism of the carbamoyl-phosphate synthetase 1 (CPS1) gene has been linked to functional consequences affecting the downstream availability of the nitric oxide precursor L-arginine. L-arginine concentrations are decreased in preterm infants with necrotizing enterocolitis (NEC). In this multicenter prospective study, we investigated the association of the p.Thr1406Asn...

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PMID: 27833157
DOI: 10.1038/srep36999
PMCID: PMC5105130

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CPS1

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