Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Author： Hucthagowder Vishwanathan   Morava Eva   Kornak Uwe   Lefeber Dirk J.   Fischer Bjrn   Dimopoulou Aikaterini   Aldinger Annika   Choi Jiwon   Davis Elaine C.   Abuelo Dianne N.   Adamowicz Maciej   Al-Aama Jumana   Basel-Vanagaite Lina   Fernandez Bridget   Greally Marie T.   Gillessen-Kaesbach Gabriele   Kayserili Hulya   Lemyre Emmanuelle   Tekin Mustafa   Trkmen Seval   Tuysuz Beyhan   Yksel-Konuk Berrin   Mundlos Stefan   Van Maldergem Lionel   Wevers Ron A.   Urban Zsolt  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.18, Iss.12, 2009-06, pp. : 2149-2165

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