A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree

J Cell Mol Med. 2019 May;23(5):3776-3780. doi: 10.1111/jcmm.14278. Epub 2019 Mar 20.
No abstract available

Publication types

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

MeSH terms

  • Asian People / genetics
  • Base Sequence
  • China
  • Family Health
  • Female
  • Genes, Dominant*
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Peripherins / genetics*
  • RNA Splicing / genetics*
  • Retinitis Pigmentosa / ethnology
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology

Substances

  • PRPH2 protein, human
  • Peripherins