Article
A new set of primers for mutation analysis of the human PAX6 gene.
Human mutation - 1 Jan 1998
Love J, Axton R, Churchill A, van Heyningen V, Hanson I
Abstract excerpt
Mutations in the human PAX6 gene are an important cause of dominantly inherited congenital malformations of the eye, including aniridia, Peters' anomaly, keratitis, and isolated foveal hypoplasia. To satisfy the need for efficient detection of PAX6 mutations, we have developed a new set of oligon...
Topics
- Blood Cells
- Cells, Cultured
- DNA Primers
- DNA-Binding Proteins
- Exons
- Eye Proteins
- Female
- Frameshift Mutation
- Homeodomain Proteins
- Humans
- Lymphocytes
- Male
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational