Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration

Br J Ophthalmol. 2005 Aug;89(8):1063-4. doi: 10.1136/bjo.2004.064139.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Humans
  • Macular Degeneration / genetics*
  • Male
  • Mandibulofacial Dysostosis / genetics*
  • Mutation*
  • Nuclear Proteins / genetics*
  • Phosphoproteins / genetics*

Substances

  • Nuclear Proteins
  • Phosphoproteins
  • TCOF1 protein, human