PAX6 missense mutation in isolated foveal hypoplasia

Nat Genet. 1996 Jun;13(2):141-2. doi: 10.1038/ng0696-141.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA-Binding Proteins / genetics*
  • Eye Abnormalities / genetics
  • Eye Proteins
  • Female
  • Fovea Centralis / abnormalities*
  • Homeodomain Proteins*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Pedigree
  • Repressor Proteins

Substances

  • DNA-Binding Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins