Article
Mutations in the Norrie disease gene.
Human mutation - 1 Jan 1995
Schuback D E, Chen Z Y, Craig I W, Breakefield X O, Sims K B
Abstract excerpt
We report our experience to date in mutation identification in the Norrie disease (ND) gene. We carried out mutational analysis in 26 kindreds in an attempt to identify regions presumed critical to protein function and potentially correlated with generation of the disease phenotype. All coding ex...
Topics
- Adolescent
- Adult
- Base Sequence
- Blindness
- Child
- Child, Preschool
- Chromosome Mapping
- DNA Mutational Analysis
- Eye Proteins
- Humans
- Infant
- Middle Aged
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Polymerase Chain Reaction