Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia

Hum Mutat. 1998:Suppl 1:S207-8. doi: 10.1002/humu.1380110167.
No abstract available

Publication types

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

MeSH terms

  • Alternative Splicing / genetics
  • Amino Acid Substitution
  • Aniridia / genetics*
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Eye Proteins
  • Frameshift Mutation
  • Homeodomain Proteins*
  • Humans
  • Introns / genetics
  • Mutation
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Point Mutation
  • Repressor Proteins
  • Sequence Deletion

Substances

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