Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Author:

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 Björn,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.

Funder

Ghent University

Dutch Metakids foundation

Netherlands Organisation for Scientific Research

Dutch Stofwisselkracht foundation

German Bundesministerium für Bildung und Forschung

S.K. Yee Medical Research Fund

Society for the Relief of Disabled Children Research Fund in Hong Kong

European Commission

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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