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Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

Academic Article
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Overview

authors

  • Chen, Y. Z.
  • Friedman, J. R.
  • Chen, D. H.
  • Chan, G. C. K.
  • Bloss, C. S.
  • Hisama, F. M.
  • Topol, S. E.
  • Carson, A. R.
  • Pham, P. H.
  • Bonkowski, E. S.
  • Scott, E. R.
  • Lee, J. K.
  • Zhang, G.
  • Oliveira, Glenn
  • Xu, J.
  • Scott-Van Zeeland, A. A.
  • Chen, Q.
  • Levy, Samuel
  • Topol, Eric
  • Storm, D.
  • Swanson, P. D.
  • Bird, T. D.
  • Schork, Nicholas
  • Raskind, W. H.
  • Torkamani, Ali

publication date

  • April 2014

journal

  • Annals of Neurology  Journal

subject areas

  • Adenylyl Cyclases
  • Adolescent
  • Cyclic AMP
  • Dystonic Disorders
  • Facial Nerve Diseases
  • Female
  • Green Fluorescent Proteins
  • HEK293 Cells
  • Humans
  • Models, Molecular
  • Mutagenesis, Site-Directed
  • Mutation, Missense
  • Transfection
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Identity

PubMed Central ID

  • PMC4457323

International Standard Serial Number (ISSN)

  • 0364-5134

Digital Object Identifier (DOI)

  • 10.1002/ana.24119

PubMed ID

  • 24700542
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Additional Document Info

start page

  • 542

end page

  • 549

volume

  • 75

issue

  • 4

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