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

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. 2002 Aug;39(8):e47. doi: 10.1136/jmg.39.8.e47

N Marchbank

, J Craig

, J Leek

, M Toohey

, A Churchill

, A Markham

, D Mackey

, C Toomes

, C Inglehearn

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PMCID: PMC1735190 PMID: 12161614

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