Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
Airoldi, Giovanni
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. [electronic resource] - Neurogenetics Feb 2010 - 91-100 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1364-6753
10.1007/s10048-009-0206-0 doi
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
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. [electronic resource] - Neurogenetics Feb 2010 - 91-100 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1364-6753
10.1007/s10048-009-0206-0 doi
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