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Recessive mutations in EPG5 cause Vici syndrome, a multisys..:
Cullup, Thomas
;
Kho, Ay Lin
;
Dionisi-Vici, Carlo
...
Nature Genetics. 45 (2012) 1 - p. 83-87 , 2012
Link:
https://doi.org/10.1038/ng.2497
RT Journal T1
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_ng.2497&Exemplar=1&LAN=DE A1 Cullup, Thomas A1 Kho, Ay Lin A1 Dionisi-Vici, Carlo A1 Brandmeier, Birgit A1 Smith, Frances A1 Urry, Zoe A1 Simpson, Michael A A1 Yau, Shu A1 Bertini, Enrico A1 McClelland, Verity A1 Al-Owain, Mohammed A1 Koelker, Stefan A1 Koerner, Christian A1 Hoffmann, Georg F A1 Wijburg, Frits A A1 Hoedt, Amber E ten A1 Rogers, R Curtis A1 Manchester, David A1 Miyata, Rie A1 Hayashi, Masaharu A1 Said, Elizabeth A1 Soler, Doriette A1 Kroisel, Peter M A1 Windpassinger, Christian A1 Filloux, Francis M A1 Al-Kaabi, Salwa A1 Hertecant, Jozef A1 Del Campo, Miguel A1 Buk, Stefan A1 Bodi, Istvan PB Springer Science and Business Media LLC YR 2012 SN 1061-4036 SN 1546-1718 JF Nature Genetics VO 45 IS 1 SP 83 OP 87 LK http://dx.doi.org/https://doi.org/10.1038/ng.2497 DO https://doi.org/10.1038/ng.2497 SF ELIB - SuUB Bremen
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