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Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

AuthorsBrent L Fogel, Susan Perlman
JournalNeurology (Neurology) Vol. 67 Issue 11 Pg. 2083-4 (Dec 12 2006) ISSN: 1526-632X [Electronic] United States
PMID17159128 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Multifunctional Enzymes
  • SETX protein, human
  • DNA Helicases
  • RNA Helicases
Topics
  • Adult
  • Apraxias (complications, enzymology, genetics)
  • Ataxia (complications, enzymology, genetics)
  • DNA Helicases (genetics)
  • Female
  • Humans
  • Male
  • Multifunctional Enzymes
  • Mutation, Missense
  • Oculomotor Nerve Diseases (complications, enzymology, genetics)
  • Pedigree
  • Protein Structure, Tertiary (genetics)
  • RNA Helicases (genetics)

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