Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing

J Med Genet. 2003 Aug;40(8):e101. doi: 10.1136/jmg.40.8.e101.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Cell Cycle Proteins
  • Cohort Studies
  • Diagnostic Techniques, Ophthalmological
  • Eye Proteins / genetics*
  • Genetic Heterogeneity
  • Genetic Variation / genetics*
  • Glaucoma / genetics
  • Glaucoma, Open-Angle / diagnosis*
  • Glaucoma, Open-Angle / epidemiology
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Intraocular Pressure / genetics
  • Membrane Transport Proteins
  • Mutation
  • Mutation, Missense / genetics
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Prevalence
  • Protein Isoforms / genetics
  • Transcription Factor TFIIIA*
  • United Kingdom / epidemiology

Substances

  • Cell Cycle Proteins
  • Eye Proteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • OPTN protein, human
  • Protein Isoforms
  • Transcription Factor TFIIIA