Molecular genetic research into carbamoyl-phosphate synthase I: Molecular defects and linkage markers
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005349306311/fullpdf
Reference23 articles.
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2. Disorders of the urea cycle;Brusilow;Hosp Prac,1985
3. Regulation of mRNA levels of rat liver carbamoylphosphate synthetase by glucocorticosteroids and cyclic AMP as estimated with a specific cDNA;Groot;Biochem Biophys Res Commun,1984
4. Mutational analysis of carbamyl phosphate synthetase. Substitution of Glu841 leads to loss of functional coupling between the two catalytic domains of the synthetase subunit;Guillou;Biochemistry,1992
5. Mammalian urea cycle enzymes (Review);Jackson;Annu Rev Genet,1986
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1. Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency;Frontiers in Neuroscience;2022-10-21
2. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency;Clinica Chimica Acta;2022-02
3. Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency;Journal of Clinical Laboratory Analysis;2019-11-20
4. Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature;Frontiers in Genetics;2019-08-22
5. Amino Acids;Volpe's Neurology of the Newborn;2018
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