A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II

J Genet. 2014 Dec;93(3):837-41. doi: 10.1007/s12041-014-0443-3.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Female
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Protein Isoforms
  • Receptors, G-Protein-Coupled / genetics*
  • Sequence Analysis, DNA
  • Usher Syndromes / genetics*
  • Usher Syndromes / pathology

Substances

  • ADGRV1 protein, human
  • Protein Isoforms
  • Receptors, G-Protein-Coupled

Supplementary concepts

  • Usher syndrome, type 2C