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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer, Aikaterini Dimopoulou, Annika Aldinger, Jiwon Choi, Elaine C. Davis, Dianne N. Abuelo, Maciej Adamowicz, Jumana Al-Aama, Lina Basel-Vanagaite, Bridget Fernandez, Marie T. Greally, Gabriele Gillessen-Kaesbach, Hulya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen
*Corresponding author for this work
- Washington University in St. Louis
- Radboud University Nijmegen
- Institute for Medical Genetics
- Charite - Universitatsmedizin Berlin
- Development and Disease Research Group
- MPI Molekulare Genetik
- McGill University
- Department of Pediatrics
- Brown University
- Department of Biochemistry and Experimental Medicine
- Children's Memorial Health Institute
- Princess Al Jawhara Center of Excellence
- King Abdulaziz University
- Rabin Medical Center Israel
- Tel-Aviv University
- Eastern Health
- Our Lady's Children's Hospital
- National Centre for Medical Genetics
- Department of Medical Genetics
- Istanbul University
- Service de génétique
- CHU Sainte-Justine - Le centre hospitalier universitaire mere-enfant
- Department of Pediatrics
- Ankara University School of Medicine
- Department of Pediatric Genetics
- Istanbul University, Cerrahpasa Faculty of Medicine
- Centre de Génétique Humaine
- University Hospital of Liège
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