Article
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.
Human mutation - 1 Jan 1995
Tuchman M, Plante R J
Abstract excerpt
This mutation update addendum summarizes 30 new mutations and polymorphisms found in the ornithine transcarbamylase (OTC) gene since the publication in this journal of the first mutation update. Thus, more than 60 mutations and polymorphisms in the OTC gene are currently known. Most of the mutati...
Topics
- DNA Mutational Analysis
- Exons
- Humans
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Polymorphism, Genetic