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Items: 2

1.
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.
R Hoshide, T Matsuura, Y Haraguchi, F Endo, M Yoshinaga, I Matsuda
J Clin Invest. 1993 May; 91(5): 1884–1887. doi: 10.1172/JCI116405
PMCID:
PMC288181
SummaryPage BrowsePDF–890K
2.
N‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects
Sufin Yap, Nadine Gougeard, Anthony R. Hart, Belén Barcelona, Vicente Rubio
JIMD Rep. 2019 Jul; 48(1): 36–44. Published online 2019 May 2. doi: 10.1002/jmd2.12034
PMCID:
PMC6606979
AbstractArticlePDF–2.9M

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