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 journalArticlepeer-review

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

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