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Article

The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants.

PloS one - 25 May 2010

Moonen Rob M J, Reyes Iballa, Cavallaro Giacomo, González-Luis Gema, Bakker Jaap A, Villamor Eduardo

Abstract excerpt

BACKGROUND: A C-to-A nucleotide transversion (T1405N) in the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1) has been associated with changes in plasma concentrations of L-arginine in term and near term infants but not in adults. In preterm infants homozygosity for the CPS1 Thr1405 variant (CC genotype) was associated with an increased risk of having necrotizing enterocolitis (NEC). Plasma L-arginine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20520828
DOI: 10.1371/journal.pone.0010792
PMCID: PMC2876028

Genes

CPS1

Provenance

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