doi: 10.1073/pnas.0603161103 124 MaherPvanLeyen KDeyPNHonrathBDolgaAMethnerA
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10.1007/s00439-001-0633-y 417 Shimizu S., Mori N., Kishi M., Sugata H., Tsuda A., Kubota N., A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy