Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene

Adv Exp Med Biol. 2008:613:221-7. doi: 10.1007/978-0-387-74904-4_25.
No abstract available

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine / metabolism
  • DNA Mutational Analysis
  • Electroretinography
  • Eye Proteins / genetics*
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / physiopathology
  • Heterozygote
  • Humans
  • Male
  • Mutation, Missense*
  • Otitis Media / genetics
  • Otitis Media / pathology
  • Pedigree
  • Phenotype
  • Respiratory Tract Infections / genetics
  • Respiratory Tract Infections / pathology
  • Retina / metabolism
  • Retina / pathology
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Retinitis Pigmentosa / physiopathology
  • Usher Syndromes / genetics*

Substances

  • Eye Proteins
  • RPGR protein, human
  • Arginine