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