Article
Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
American journal of human genetics - 1 Jun 1991
Carstens R P, Fenton W A, Rosenberg L R
Abstract excerpt
Ornithine transcarbamylase (OTC) is an X-linked, liver-specific enzyme that catalyzes the second step of the urea cycle. In humans, inherited deficiency of OTC in hemizygous affected males usually results in severe ammonia intoxication and early death. To characterize mutations responsible for OT...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Blotting, Western
- Cross Reactions
- DNA
- Exons
- Female
- Humans
- Introns
- Liver
- Male
- Molecular Sequence Data
- Mutation
- Ornithine Carbamoyltransferase Deficiency Disease
- Polymerase Chain Reaction
- Precipitin Tests
- RNA Splicing