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Nele M. G. Dieckmann
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Journal Articles

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, Nele M. G. Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha Plank, Roland Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Julia Bank, Anne Strauss, Horst von Bernuth, Udo zur Stadt, Samantha Grieve, Gillian M. Griffiths, Kai Lehmberg, Hans Christian Hennies, Stephan Ehl
Journal: Blood
Blood (2016) 127 (8): 997–1006.
https://doi.org/10.1182/blood-2015-09-671636
Published: 2016
Includes: Supplemental data