Article
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.
Human molecular genetics - 1 Jul 1992
Morell R, Friedman T B, Moeljopawiro S, Hartono, Soewito, Asher J H
Abstract excerpt
Waardenburg syndrome type 1 (WS1) is an autosomal dominant disorder characterized by deafness, dystopia canthorum, heterochromia iridis, white forelock, and premature greying. A similar phenotype is caused in the mouse by mutations in the Pax-3 gene. This observation, together with comparisons of...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Conserved Sequence
- DNA
- Female
- Frameshift Mutation
- Humans
- Indonesia
- Male
- Mice
- Molecular Sequence Data
- Pedigree
- Phenotype
- Species Specificity
- Waardenburg Syndrome