OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. [electronic resource]
Producer: 20060131Description: 958-63 p. digitalISSN:- 0364-5134
- Adolescent
- Adult
- Animals
- Audiometry
- Child
- Cochlea -- metabolism
- Cricetinae
- Female
- Fibroblasts -- metabolism
- GTP Phosphohydrolases -- genetics
- Genotype
- Hearing Loss, Sensorineural -- genetics
- Humans
- Male
- Mitochondria -- metabolism
- Optic Atrophy, Autosomal Dominant -- genetics
- Oxygen Consumption
- Phenotype
- Point Mutation
- Skin -- cytology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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