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Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.

AuthorsE Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali
JournalJournal of medical genetics (J Med Genet) Vol. 41 Issue 6 Pg. e82 (Jun 2004) ISSN: 1468-6244 [Electronic] England
PMID15173248 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Calcium Channels, N-Type
  • voltage-dependent calcium channel (P-Q type)
Topics
  • Adolescent
  • Adult
  • Aged
  • Amino Acid Sequence
  • Calcium Channels, N-Type (genetics)
  • Cerebellar Ataxia (genetics, pathology)
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Polymorphism, Single-Stranded Conformational
  • Sequence Homology, Amino Acid

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