Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation
Venkateswaran, Sunita, Myers, Ken A., Smith, Amanda C., Beaulieu, Chandree L., Schwartzentruber, Jeremy A., Majewski, Jacek, Bulman, Dennis, Boycott, Kym M., Dyment, David A.Volume:
55
Langue:
english
Journal:
Epilepsia
DOI:
10.1111/epi.12663
Date:
July, 2014
Fichier:
PDF, 682 KB
english, 2014