A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
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 = {https://publications.crs4.it/pubdocs/2013/PPPMACCLVSC13},
}