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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalo..:
Hall, Emma A.
;
Nahorski, Michael S.
;
Murray, Lyndsay M.
...
The American Journal of Human Genetics. 100 (2017) 5 - p. 706-724 , 2017
Link:
https://doi.org/10.1016/j.ajhg.2017.03.008
RT Journal T1
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2017.03.008&Exemplar=1&LAN=DE A1 Hall, Emma A. A1 Nahorski, Michael S. A1 Murray, Lyndsay M. A1 Shaheen, Ranad A1 Perkins, Emma A1 Dissanayake, Kosala N. A1 Kristaryanto, Yosua A1 Jones, Ross A. A1 Vogt, Julie A1 Rivagorda, Manon A1 Handley, Mark T. A1 Mali, Girish R. A1 Quidwai, Tooba A1 Soares, Dinesh C. A1 Keighren, Margaret A. A1 McKie, Lisa A1 Mort, Richard L. A1 Gammoh, Noor A1 Garcia-Munoz, Amaya A1 Davey, Tracey A1 Vermeren, Matthieu A1 Walsh, Diana A1 Budd, Peter A1 Aligianis, Irene A. A1 Faqeih, Eissa A1 Quigley, Alan J. A1 Jackson, Ian J. A1 Kulathu, Yogesh A1 Jackson, Mandy A1 Ribchester, Richard R. PB Elsevier BV YR 2017 SN 0002-9297 JF The American Journal of Human Genetics VO 100 IS 5 SP 706 OP 724 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2017.03.008 DO https://doi.org/10.1016/j.ajhg.2017.03.008 SF ELIB - SuUB Bremen
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