Article
Four new mutations in the ornithine transcarbamylase gene.
Biochemical medicine and metabolic biology - 1 Oct 1993
Reish O, Plante R J, Tuchman M
Abstract excerpt
We characterized four new mutations in the ornithine transcarbamylase (OTC) gene in three male infants who died from acute neonatal hyperammonemia and one male infant with late onset disease. OTC enzymatic activity was undetectable in the livers of the three neonates, whereas residual enzymatic a...
Topics
- Ammonia
- Base Sequence
- DNA
- Electrophoresis, Polyacrylamide Gel
- Exons
- Humans
- Infant
- Infant, Newborn
- Liver
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Polymerase Chain Reaction
- Restriction Mapping