Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. [electronic resource]
Producer: 20130626Description: 172-6 p. digitalISSN:- 1872-7131
- Ataxia -- etiology
- Atrophy
- Cerebellar Diseases -- genetics
- Codon, Nonsense -- genetics
- DNA Mutational Analysis
- Disease Progression
- Electroencephalography
- Humans
- Magnetic Resonance Imaging
- Male
- X-Linked Intellectual Disability -- genetics
- Mutation -- genetics
- Retinal Degeneration -- etiology
- Retinitis Pigmentosa -- genetics
- Sodium-Hydrogen Exchangers -- genetics
- Syndrome
- Young Adult
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Publication Type: Journal Article
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