Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

@article{Reiners2005ScaffoldPH,
  title={Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.},
  author={Jan Reiners and Erwin van Wijk and Tina Maerker and Ulrike Zimmermann and Karin J{\"u}rgens and Heleen te Brinke and Nora Overlack and Ronald Roepman and Marlies Knipper and Hannie Kremer and Uwe Wolfrum},
  journal={Human molecular genetics},
  year={2005},
  volume={14 24},
  pages={3933-43}
}
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. USH is clinically and genetically heterogeneous with at least 11 chromosomal loci assigned to the three USH types (USH1A-G, USH2A-C, USH3A). Although the different USH types exhibit almost the same phenotype in human, the identified USH genes encode for proteins which belong to very different protein classes and families. We and others recently reported that the scaffold protein harmonin (USH1C-gene product… CONTINUE READING

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