Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia

Hum Mutat. 1999 Sep 19;14(3):272-3. doi: 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU21>3.0.CO;2-V.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aniridia / genetics*
  • Base Sequence
  • Chromosomes, Human, Pair 11
  • DNA-Binding Proteins / genetics*
  • Eye Proteins / genetics
  • Homeodomain Proteins*
  • Humans
  • Mutation, Missense
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Point Mutation
  • Polymerase Chain Reaction
  • Repressor Proteins

Substances

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