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Journal Article
Basmanav, F. Buket, Oprisoreanu, Ana-Maria 
ORCID: 0000-0002-9409-0830, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter ORCID: 0000-0002-4571-8812, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette ORCID: 0000-0002-3004-0180, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C.
(2014).
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease.
Am. J. Hum. Genet., 94 (1).
S. 135 - 144.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605