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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Tommaso Pippucci, A Parmeggiani, F Palombo, A Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, R Liguori, ML Valentino, Marco Seri, Valerio Carelli
PLoS One, Volume 8 (12), page 1-7 - december 2013

Références BibTex

@Article{PPPMACCLVSC13,
  author       = {Pippucci, T. and Parmeggiani, A. and Palombo, F. and Maresca, A. and Angius, A. and Crisponi, L. and Cucca, F. and Liguori, R. and Valentino, M. and Seri, M. and Carelli, V.},
  title        = {A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.},
  journal      = {PLoS One},
  volume       = {8 (12)},
  pages        = {1-7},
  month        = {december},
  year         = {2013},
  keywords     = {Exome, CACNA2D2 gene, epileptic encephalopathy},
  doi          = {10.1371/journal.pone.0082154},
  url          = {http://publications.crs4.it/pubdocs/2013/PPPMACCLVSC13},
}

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