Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Toomes C; Marchbank NJ; Mackey DA; Craig JE; Newbury-Ecob RA; Bennett CP; Vize CJ; Desai SP; Black GC; Patel N; Teimory M; Markham AF; Inglehearn CF; Churchill AJ; Human Molecular Genetics, 2001, vol. 10, issue 13, p 1369, ISSN 09646906. ISBN 09646906.

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