A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia

Hum Mutat. 2000 Jun;15(6):582. doi: 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aniridia / genetics*
  • Chromosomes, Human, Pair 11 / genetics
  • DNA-Binding Proteins / genetics*
  • Eye Proteins
  • Homeodomain Proteins*
  • Humans
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Repressor Proteins
  • Sequence Deletion / genetics*

Substances

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