Article
A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).
Molecular and cellular probes - 1 Jun 1997
Attaie A, Kim E, Wilcox E R, Lalwani A K
Abstract excerpt
Waardenburg syndrome, an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances and other developmental defects, is the most frequent form of congenital deafness in humans. Mutations in the PAX3 gene, a transcription factor expressed during embryonic deve...
Topics
- Alternative Splicing
- DNA
- DNA-Binding Proteins
- Female
- Humans
- Introns
- Male
- Mutation
- PAX3 Transcription Factor
- Paired Box Transcription Factors
- Pedigree
- Polymorphism, Single-Stranded Conformational