Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31

Br J Ophthalmol. 2007 Oct;91(10):1411-3. doi: 10.1136/bjo.2006.105163.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Eye Proteins / genetics*
  • Family Health
  • Female
  • Fluorescein Angiography
  • Genes, Dominant / genetics*
  • Humans
  • Mutation / genetics
  • Phenotype
  • Retinitis Pigmentosa / genetics*

Substances

  • Eye Proteins
  • PRPF31 protein, human