A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. [electronic resource]
Producer: 20041207Description: 509-12 p. digitalISSN:- 1018-4813
- Adolescent
- Base Sequence
- Chromosome Segregation
- DNA, Mitochondrial -- chemistry
- Electron Transport Complex IV -- metabolism
- Female
- Gastrointestinal Diseases -- genetics
- Hearing Loss, Sensorineural -- genetics
- Humans
- Mitochondrial Encephalomyopathies -- genetics
- Molecular Sequence Data
- Muscle Fibers, Skeletal -- enzymology
- Ophthalmoplegia -- genetics
- Point Mutation -- genetics
- RNA, Transfer, Trp -- genetics
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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