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A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

par Thiselton, Dawn L;Alexander, Christiane;Taanman, J W;Brooks, Simon;Rosenberg, Thomas;Eiberg, Hans;Andreasson, Sten;Van Regemorter, Nicole ;Munier, Francis;Moore, Anthony T;Bhattacharya, Shomi S;Votruba, Marcela
Référence Investigative ophthalmology & visual science, 43, 6, page (1715-1724)
Publication Publié, 2002-06

Article révisé par les pairs

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Résumé :

To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this gene, and to assess any genotype-phenotype correlations.