OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. [electronic resource]
Producer: 20050505Description: e110 p. digitalISSN:- 1468-6244
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Apoptosis -- drug effects
- Cataract -- complications
- Child
- DNA Mutational Analysis
- Female
- Fibroblasts
- France
- Genes, Dominant -- genetics
- Humans
- Infant
- Lod Score
- Male
- Membrane Potentials
- Middle Aged
- Mitochondria -- metabolism
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Optic Atrophy, Autosomal Dominant -- complications
- Pedigree
- Proteins -- chemistry
- Staurosporine -- pharmacology
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Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
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