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

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Description scientific article published on 7 January 2016
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author: Holger Thiele  Stephan Ehl  Peter Nürnberg  Gillian Griffiths  Janine Altmüller  Sandra Ammann  Ingeborg Krägeloh-Mann 

Publication date January 7, 2016
Language English
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