Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.

@article{Haraguchi1991CloningAS,
  title={Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.},
  author={Yougo Haraguchi and Takako Uchino and Masaki Takiguchi and Fumio Endo and Mitsuko Mori and Ichiro Matsuda},
  journal={Gene},
  year={1991},
  volume={107 2},
  pages={335-40}
}
Carbamyl phosphate synthetase I (CPSI) is the first enzyme involved in urea synthesis. CPSI deficiency is an autosomal recessive disorder characterized by hyperammonemic coma in the neonatal period. To analyze the enzyme and gene structures, and to elucidate the nature of mutations in CPSI deficiency, we isolated cDNA clones encoding human liver CPSI. Oligo(dT)-primed and random primer human liver cDNA libraries in lambda gt11 were screened using 5', middle, and 3' fragments of the rat CPSI… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society • 2011
View 1 Excerpt

Similar Papers

Loading similar papers…