Article
Mutations in the candidate gene for Norrie disease.
Human molecular genetics - 1 Oct 1992
Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers H H
Abstract excerpt
Recently, we and others have isolated a candidate gene for X linked Norrie disease (ND) which was found to be deleted or disrupted in several patients. As a prerequisite for the identification of point mutations in the ND gene we have established the exon-intron structure of this gene. In 17 unre...
Topics
- Base Sequence
- Blindness
- DNA
- DNA Mutational Analysis
- Exons
- Genetic Linkage
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Promoter Regions, Genetic
- X Chromosome