Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
- Resource Type
- Article
- Authors
- Ammann, Sandra; Schulz, Ansgar; Krägeloh-Mann, Ingeborg; Dieckmann, Nele M.G.; Niethammer, Klaus; Fuchs, Sebastian; Eckl, Katja Martina; Plank, Roswitha; Werner, Roland; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Bank, Julia; Strauss, Anne; von Bernuth, Horst; zur Stadt, Udo; Grieve, Samantha; Griffiths, Gillian M.; Lehmberg, Kai; Hennies, Hans Christian ; Ehl, Stephan
- Source
- In Blood 25 February 2016 127(8):997-1006
- Subject
- Language
- ISSN
- 0006-4971