Dominant optic atrophy: correlation between clinical and molecular genetic studies

Author:

Puomila Anu,Huoponen Kirsi,Mäntyjärvi Maija,Hämäläinen Petra,Paananen Reetta,Sankila Eeva-Marja,Savontaus Marja-Liisa,Somer Mirja,Nikoskelainen Eeva

Publisher

Wiley

Subject

Ophthalmology

Reference46 articles.

1. Spectral sensitivity measurements performed with the Goldmann perimeter;Airas;Acta Ophthalmol (Copenh),1981

2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000

3. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene;Amati-Bonneau;Am J Ophthalmol,2003

4. A family with optic atrophy and congenital hearing loss;Amemiya;Ophthalmic Genet,1994

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