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

V Hucthagowder, E Morava, U Kornak, D. J Lefeber, B Fischer, A Dimopoulou, A Aldinger, J Choi, E. C Davis, D. N Abuelo, M Adamowicz, J Al Aama, L Basel Vanagaite, B Fernandez, M. T Greally, G Gillessen Kaesbach, H Kayserili, E Lemyre, M Tekin, S Turkmen, B Tuysuz, B Yuksel Konuk, S Mundlos, L Van Maldergem, R. A Wevers and Z. Urban

Human Molecular Genetics 18 ( 12 ): 2149 - 2165 , 2009