Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

N Marchbank, Jamie Craig, J Leek, M Toohey, A Churchill, A Markham, D Mackey, C Toomes, C Inglehearn

    Research output: Contribution to journalArticle

    57 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)e47
    JournalJournal of Medical Genetics
    Volume39
    Issue number8
    Publication statusPublished - 2002

    Cite this

    Marchbank, N., Craig, J., Leek, J., Toohey, M., Churchill, A., Markham, A., Mackey, D., Toomes, C., & Inglehearn, C. (2002). Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. Journal of Medical Genetics, 39(8), e47.