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

N. J. Murton, I. Rehman, G. C. Black, C. F. Inglehearn, A. J. Churchill

    Research output: Contribution to journalArticlepeer-review

    Original languageEnglish
    Pages (from-to)582
    JournalHuman Mutation
    Volume15
    Issue number6
    Publication statusPublished - Jun 2000

    Keywords

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

    Cite this