Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa

Ophthalmic Genet. 2017 Sep-Oct;38(5):494-497. doi: 10.1080/13816810.2016.1275020. Epub 2017 Jan 17.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cataract / genetics
  • Consanguinity
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Exome Sequencing
  • Eye Diseases / genetics
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Myopia, Degenerative / genetics
  • Pedigree
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Transcription Factors / genetics*
  • Vitreous Body / pathology

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • ZNF408 protein, human