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A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14.

AuthorsTakehiro Ueda, Tsuneyoshi Seki, Kimitaka Katanazaka, Kenji Sekiguchi, Kazuhiro Kobayashi, Fumio Kanda, Tatsushi Toda
JournalJournal of neurology (J Neurol) Vol. 260 Issue 6 Pg. 1664-6 (Jun 2013) ISSN: 1432-1459 [Electronic] Germany
PMID23604456 (Publication Type: Case Reports, Letter)
Chemical References
  • protein kinase C gamma
  • Protein Kinase C
Topics
  • Amino Acid Sequence
  • Base Sequence
  • Brain (pathology)
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Protein Kinase C (genetics)
  • Spinocerebellar Ataxias
  • Spinocerebellar Degenerations (genetics, pathology)

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