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

S Ammann, A Schulz, I Krageloh-Mann, NM Dieckmann, K Niethammer, S Fuchs, Katja-Martina Eckl, R Plank, R Werner, J Altmuller, H Thiele, P Nurnberg, J Bank, A Strauss, H von Bernuth, U Zur Stadt, S Grieve, GM Griffiths, K Lehmberg, HC HenniesS Ehl

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