Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. [electronic resource]
Producer: 20100310Description: 26-35 p. digitalISSN:- 1090-0535
- Adult
- Aged, 80 and over
- Amino Acid Sequence
- Base Sequence
- Conserved Sequence
- DNA Mutational Analysis
- Diabetes Mellitus -- genetics
- Evolution, Molecular
- Family
- Female
- Genes, Dominant -- genetics
- Genetic Association Studies
- Genetic Predisposition to Disease
- Hearing Loss, Sensorineural -- complications
- Hearing Tests
- Humans
- Male
- Membrane Proteins -- chemistry
- Middle Aged
- Molecular Sequence Data
- Mutation -- genetics
- Ocular Physiological Phenomena
- Optic Nerve Diseases -- complications
- Pedigree
- Phenotype
- Young Adult
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Publication Type: Journal Article
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