Article
Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
Genomics - 1 Jun 1990
Finkelstein J E, Francomano C A, Brusilow S W, Traystman M D
Abstract excerpt
Ornithine transcarbamylase (ornithine carbamoyltransferase, EC 2.1.3.3) deficiency is an X-linked inborn error of metabolism with considerable phenotypic variability in affected males. Using a combination of the polymerase chain reaction and denaturing gradient gel electrophoresis (DGGE), we defi...
Topics
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Pedigree
- Polymerase Chain Reaction