Article
Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.
Enzyme - 1 Jan 1991
Liechti-Gallati S, Dionisi C, Bachmann C, Wermuth B, Colombo J P
Abstract excerpt
Ornithine transcarbamylase (OTC) is one of 5 enzymes in the detoxification of ammonia to urea, and its deficiency, an X-linked disease, is the most common inborn error of urea genesis in humans. Because of the devastating nature of the disease there is a strong demand for reliable and rapid molec...
Topics
- Base Sequence
- Blotting, Southern
- DNA, Single-Stranded
- Gene Frequency
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Polymerase Chain Reaction
- Prenatal Diagnosis