A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

Nat Genet. 1999 Apr;21(4):355-6. doi: 10.1038/7678.
No abstract available

Publication types

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

MeSH terms

  • Animals
  • Basic-Leucine Zipper Transcription Factors
  • Cell Line
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Eye Proteins / genetics*
  • Eye Proteins / metabolism
  • Female
  • Gene Expression Regulation
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Heteroduplex Analysis
  • Humans
  • Leucine Zippers / genetics
  • Male
  • Mutation*
  • Pedigree
  • Promoter Regions, Genetic
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics
  • Rhodopsin / metabolism
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Transfection

Substances

  • Basic-Leucine Zipper Transcription Factors
  • DNA-Binding Proteins
  • Eye Proteins
  • Genetic Markers
  • NRL protein, human
  • Recombinant Proteins
  • Transcription Factors
  • Rhodopsin