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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 St. Louis
- Radboud University Nijmegen
- Charité – Universitätsmedizin Berlin
- Max Planck Institute for Molecular Genetics
- McGill University
- Brown University
- Children's Memorial Health Institute
- King Abdulaziz University
- Rabin Medical Center Israel
- Memorial University of Newfoundland
- Our Lady's Hospital for Sick Children
- University of Lübeck
- Istanbul University
- University of Montreal
- Ankara University
- Istanbul University - Cerrahpaşa
- University of Liege
Research output: Contribution to journal › Article › peer-review
113
Scopus
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