SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

DSpace Repository

SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Author: Lenz, Dominic; McClean, Patricia; Kansu, Aydan; Bonnen, Penelope E.; Ranucci, Giusy; Thiel, Christian; Straub, Beate K.; Harting, Inga; Alhaddad, Bader; Dimitrov, Bianca; Kotzaeridou, Urania; Wenning, Daniel; Iorio, Raffaele; Himes, Ryan W.; Kuloglu, Zarife; Blakely, Emma L.; Taylor, Robert W.; Meitinger, Thomas; Koelker, Stefan; Prokisch, Holger; Hoffmann, Georg F.; Haack, Tobias B.; Staufner, Christian
Tübinger Autor(en):
Haack, Tobias
Published in: Genetics in Medicine (2018), Bd. 20, H. 10, S. 1255-1265
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/gim.2017.260
ISSN: 1530-0366
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
Show full item record

This item appears in the following Collection(s)