Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
Fogel
Brent L
BL
Department of Neurology, University of California at Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA. bfogel@ucla.edu
Perlman
Susan
S
D000328:Adult; D001072:Apraxias / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D001259:Ataxia / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D064251:Multifunctional Enzymes; D020125:Mutation, Missense; D015840:Oculomotor Nerve Diseases / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D020365:RNA Helicases / Q000235:genetics*
D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases