Associated Papers
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Schimpf S et al.
Human Mutation, 2008
Mutation spectrum and splicing variants in the OPA1 gene.
Delettre C et al.
Human Genetics, 2001
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Pesch UE et al.
Human Molecular Genetics, 2001
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Alexander C et al.
Nature Genetics, 2000
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