학술논문
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Document Type
Article
Author
Cullup, T.; Smith, F.; Yau, S.; Abbs, S.; Kho, A.L.; Brandmeier, B.; Gautel, M.; Dionisi-Vici, C.; Bertini, E.; Urry, Z.; Simpson, M.A.; McClelland, V.; Jungbluth, H.; Al-Owain, M.; Koelker, S.; Koerner, C.; Hoffmann, G.F.; Wijburg, F.A.; Ten Hoedt, A.E.; Rogers, R.C.; Manchester, D.; Miyata, R.; Hayashi, M.; Said, E.; Soler, D.; Kroisel, P.M.; Windpassinger, C.; Filloux, F.M.; Al-Kaabi, S.; Hertecant, J.; Del Campo, M.; Buk, S.; Bodi, I.; Goebel, H.-H.; Sewry, C.A.; Mohammed, S.; Josifova, D.
Source
In: Nature Genetics . (Nature Genetics, January 2013, 45(1):83-87)
Subject
Language
English
ISSN
10614036
15461718
15461718