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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

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

The American Journal of Human Genetics（2017）

Cited 44|Views2
Key words
V-ATPase,ATP6V1E1,ATP6V1A,cutis laxa,autosomal recessive,ARCL2,congenital disorder of glycosylation,CDG,Golgi apparatus,cellular trafficking
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