Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. [electronic resource]
Producer: 20100322Description: 91-100 p. digitalISSN:- 1364-6753
- Adult
- Apoptosis
- Apraxia, Ideomotor -- genetics
- Ataxia -- genetics
- Camptothecin -- pharmacology
- DNA Damage
- DNA Helicases
- Eye Diseases -- genetics
- Female
- Homozygote
- Humans
- Hydrogen Peroxide -- pharmacology
- Male
- Middle Aged
- Mitomycin -- pharmacology
- Multifunctional Enzymes
- Mutation
- Pedigree
- RNA Helicases -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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