Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; Van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Peter K. C.; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A.

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2018-02-19T12:03:30Z
dc.date.available	2018-02-19T12:03:30Z
dc.date.issued	2017
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/80612
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2016.12.010	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa	de_DE
dc.type	Article	de_DE
utue.quellen.id	20170815222223_01778
utue.publikation.seiten	216-227	de_DE
utue.personen.roh	Van Damme, Tim
utue.personen.roh	Gardeitchik, Thatjana
utue.personen.roh	Mohamed, Miski
utue.personen.roh	Guerrero-Castillo, Sergio
utue.personen.roh	Freisinger, Peter
utue.personen.roh	Guillemyn, Brecht
utue.personen.roh	Kariminejad, Ariana
utue.personen.roh	Dalloyaux, Daisy
utue.personen.roh	Van Kraaij, Sanne
utue.personen.roh	Lefeber, Dirk J.
utue.personen.roh	Syx, Delfien
utue.personen.roh	Steyaert, Wouter
utue.personen.roh	De Rycke, Riet
utue.personen.roh	Hoischen, Alexander
utue.personen.roh	Kamsteeg, Erik-Jan
utue.personen.roh	Wong, Sunnie Y.
utue.personen.roh	van Scherpenzeel, Monique
utue.personen.roh	Jamali, Payman
utue.personen.roh	Brandt, Ulrich
utue.personen.roh	Nijtmans, Leo
utue.personen.roh	Korenke, G. Christoph
utue.personen.roh	Chung, Brian H. Y.
utue.personen.roh	Mak, Christopher C. Y.
utue.personen.roh	Hausser, Ingrid
utue.personen.roh	Kornak, Uwe
utue.personen.roh	Fischer-Zirnsak, Bjorn
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Alanay, Yasemin
utue.personen.roh	Utine, Gulen E.
utue.personen.roh	Leung, Peter K. C.
utue.personen.roh	Ghaderi-Sohi, Siavash
utue.personen.roh	Coucke, Paul
utue.personen.roh	Symoens, Sofie
utue.personen.roh	De Paepe, Anne
utue.personen.roh	Thiel, Christian
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Malfait, Fransiska
utue.personen.roh	Morava, Eva
utue.personen.roh	Callewaert, Bert
utue.personen.roh	Wevers, Ron A.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	100	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE