Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Toomes, Carmel; Marchbank, Nicola J.; Mackey, David A.; Craig, Jamie E.; Newbury-Ecob, Ruth A.; Bennett, Chris P.; Vize, Colin J.; Desai, Shrivatsa P.; Black, Graeme C. M.; Patel, Nishal; Teimory, Masoud; Markham, Alexander F.; Inglehearn, Chris F.; Churchill, Amanda J.; Human Molecular Genetics, 2001, vol. 10, issue 13, p 1369, ISSN 09646906. ISBN 09646906.

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