A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Christiane Alexander, Marcela Votruba, Ulrike E. A. Pesch et al. · Nature Genetics · 2000 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +9

Mutation spectrum and splicing variants in the OPA1 gene

Cécile Delettre, Jean‐Michel Griffoin, Josseline Kaplan et al. · Human Genetics · 2001 · 380 citations

Life Sciences, Genetics, Molecular Genetics +13

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

U. E.A. Pesch · Human Molecular Genetics · 2001 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

Carmel Toomes · Human Molecular Genetics · 2001 · 178 citations

Life Sciences, Genetics, Molecular Genetics +15

A Novel Mutation of the OPA1 Gene in a Japanese Family with Optic Atrophy Type 1

Satoko Shimizu · Japanese Journal of Ophthalmology · 2002 · 20 citations

Medicine, Genetics, Ophthalmology +13