Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). [electronic resource]
Producer: 20090615Description: 295-9 p. digitalISSN:- 1364-6753
- Adult
- Alu Elements
- Apraxias -- complications
- Base Sequence
- Brain -- pathology
- DNA -- genetics
- DNA Helicases
- DNA Mutational Analysis
- Exons
- Gene Duplication
- Humans
- Magnetic Resonance Imaging
- Male
- Multifunctional Enzymes
- Phenotype
- RNA Helicases -- genetics
- Spinocerebellar Degenerations -- complications
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Publication Type: Case Reports; Journal Article
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