A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy. [electronic resource]
Producer: 20080211Description: 1581-3 p. digitalISSN:- 0721-832X
- Adult
- Asian People -- genetics
- DNA Mutational Analysis
- Exons
- GTP Phosphohydrolases -- genetics
- Humans
- Male
- Mutation
- Optic Atrophy, Autosomal Dominant -- diagnosis
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA
- Tomography, Optical Coherence
- Visual Acuity
- Visual Fields
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Publication Type: Case Reports; Letter
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