Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing

Eye (Lond). 2017 May;31(5):815-817. doi: 10.1038/eye.2016.327. Epub 2017 Jan 20.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Basic-Leucine Zipper Transcription Factors / genetics*
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Retinitis Pigmentosa / genetics
  • Sequence Deletion

Substances

  • Basic-Leucine Zipper Transcription Factors
  • Eye Proteins
  • NRL protein, human