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

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

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

Autor(en):

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

Erschienen in:

Genetics in Medicine (2018), Bd. 20, H. 10, S. 1255-1265

Verlagsangabe:

Nature Publishing Group

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1038/gim.2017.260

ISSN:

1530-0366