Clinical manifestation of a novel PAX6 mutation Arg128Pro

Arch Ophthalmol. 2008 Mar;126(3):428-30. doi: 10.1001/archopht.126.3.428.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Arginine / genetics
  • Cataract / genetics
  • Corneal Opacity / genetics
  • Eye Diseases, Hereditary / genetics*
  • Eye Proteins / genetics*
  • Female
  • Fovea Centralis / abnormalities
  • Homeodomain Proteins / genetics*
  • Humans
  • Iris / abnormalities
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Nystagmus, Pathologic / genetics
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Pedigree
  • Proline / genetics
  • Repressor Proteins / genetics*
  • Retinal Diseases / genetics
  • Tomography, Optical Coherence

Substances

  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins
  • Arginine
  • Proline