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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

  • Uwe Kornak
  • , Ellen Reynders
  • , Aikaterini Dimopoulou
  • , Jeroen Van Reeuwijk
  • , Bjoern Fischer
  • , Anna Rajab
  • , Birgit Budde
  • , Peter Nürnberg
  • , Francois Foulquier
  • , William B. Dobyns
  • , Dulce Quelhas
  • , Laura Vilarinho
  • , Elisa Leao-Teles
  • , Marie Greally
  • , Eva Seemanova
  • , Martina Simandlova
  • , Mustafa Salih
  • , Arti Nanda
  • , Lina Basel-Vanagaite
  • , Hulya Kayserili
  • Memmune Yuksel-Apak, Marc Larregue, Jacqueline Vigneron, Sanda Giurgea, Dirk Lefeber, Zsolt Urban, Stephanie Gruenewald, Wim Annaert, Han G. Brunner, Hans Van Bokhoven, Ron Wevers, Eva Morava, Gert Matthijs, Lionel Van Maldergem, Stefan Mundlos

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology