학술논문
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
Document Type
Article
Author
Hall, E.A.; Rivagorda, M.; Handley, M.T.; Mali, G.R.; Quidwai, T.; Soares, D.C.; Keighren, M.A.; McKie, L.; Mort, R.L.; Vermeren, M.; Budd, P.; Aligianis, I.A.; Jackson, I.J.; Mill, P.; Nahorski, M.S.; Woods, C.G.; Maher, E.R.; Murray, L.M.; Perkins, E.; Jones, R.A.; Jackson, M.; Dissanayake, K.N.; Ribchester, R.R.; Shaheen, R.; Alkuraya, F.S.; Kristaryanto, Y.; Kulathu, Y.; Vogt, J.; Walsh, D.; Gammoh, N.; von Kriegsheim, A.; Garcia-Munoz, A.; Davey, T.; Faqeih, E.; Quigley, A.J.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 4 May 2017, 100(5):706-724)
Subject
Language
English
ISSN
15376605
00029297
00029297