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MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. |
Authors: Albrecht, Beate; de Brouwer, Arjan P.; Lefeber, Dirk J.; Cremer, Kirsten; Hausser, Ingrid; Rossen, Nick; Wortmann, Saskia B.; Wevers, Ron A.; Kornak, Uwe; Morava, Eva | Date of Publication (YYYY-MM-DD): 2010-10-15 | Title of Journal: American Journal of Medical Genetics. Part A. | Volume: 152A | Issue / Number: 11 | Start Page: 2916 | End Page: 2918 | Document Type: Article | ID: 536210.0 |
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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival |
Authors: Hucthagowder, Vishwanathan; Morava, Eva; Kornak, Uwe; Lefeber, Dirk J.; Fischer, Björn; 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; Türkmen, Seval; Tuysuz, Beyhan; Yüksel-Konuk, Berrin; Mundlos, Stefan; Van Maldergem, Lionel; Wevers, Ron A.; Urban, Zsolt | Date of Publication (YYYY-MM-DD): 2009-06 | Title of Journal: Human Molecular Genetics | Volume: 18 | Issue / Number: 12 | Start Page: 2149 | End Page: 2165 | Document Type: Article | ID: 447495.0 |
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