Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

@article{Fields2002UsherST,
  title={Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.},
  author={Randall R Fields and Guimei Zhou and Dali Huang and Jack R. Davis and Claes M{\"o}ller and Samuel G. Jacobson and William J. Kimberling and Janos Sumegi},
  journal={American journal of human genetics},
  year={2002},
  volume={71 3},
  pages={607-17}
}
Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5' untranslated region, and a transcript encoding a 232-amino acid protein. The mature form of the protein is predicted to contain… CONTINUE READING

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