Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency

Hum Hered. 2001;52(2):99-101. doi: 10.1159/000053360.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carbamoyl-Phosphate Synthase (Ammonia) / genetics*
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / enzymology
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Molecular Sequence Data
  • Mutation*

Substances

  • Carbamoyl-Phosphate Synthase (Ammonia)

Associated data

  • GENBANK/AC008172
  • GENBANK/Y15793