Speichern
@article{UBHD-68742676,
author={Cullup, Thomas and Kho, Ay L. and Dionisi-Vici, Carlo and Brandmeier, Birgit and Smith, Frances and Urry, Zoe and Simpson, Michael A. and Yau, Shu and Bertini, Enrico and McClelland, Verity and Al-Owain, Mohammed and K{\"o}lker, Stefan and K{\"o}rner, Christian and Hoffmann, Georg F. and Wijburg, Frits A. and Hoedt, Amber E. ten and Rogers, Curtis and Manchester, David and Miyata, Rie and Hayashi, Masaharu and Said, Elizabeth and Soler, Doriette and Kroisel, Peter M. and Windpassinger, Christian and Filloux, Francis M. and Al-Kaabi, Salwa and Hertecant, Jozef and Del Campo, Miguel and Buk, Stefan and Bodi, Istvan and Goebel, Hans-Hilmar and Sewry, Caroline A. and Abbs, Stephen and Mohammed, Shehla and Josifova, Dragana and Gautel, Mathias and Jungbluth, Heinz},
title={Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy},
year={2013},
pages={83-87},
language={eng},
issn={1546-1718},
volume={45},
number={1},
note={Epub: 2012 Dec 9 ; Gesehen am 31.05.2021},
journal={Nature genetics},
doi={10.1038/ng.2497},
}
