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

Ammann, Sandra; Schulz, Ansgar; Kraegeloh-Mann, Ingeborg; Dieckmann, Nele M. G.; Niethammer, Klaus; Fuchs, Sebastian; Eckl, Katja Martina; Plank, Roswitha; Werner, Roland; Altmueller, Janine; Thiele, Holger; Nuernberg, Peter; Bank, Julia; Strauss, Anne; von Bernuth, Horst; zur Stadt, Udo; Grieve, Samantha; Griffiths, Gillian M.; Lehmberg, Kai; Hennies, Hans Christian; Ehl, Stephan

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

Author:

Ammann, Sandra; Schulz, Ansgar; Kraegeloh-Mann, Ingeborg; Dieckmann, Nele M. G.; Niethammer, Klaus; Fuchs, Sebastian; Eckl, Katja Martina; Plank, Roswitha; Werner, Roland; Altmueller, Janine; Thiele, Holger; Nuernberg, Peter; Bank, Julia; Strauss, Anne; von Bernuth, Horst; zur Stadt, Udo; Grieve, Samantha; Griffiths, Gillian M.; Lehmberg, Kai; Hennies, Hans Christian; Ehl, Stephan

Tübinger Autor(en):

Krägeloh-Mann, Ingeborg

Published in:

Blood (2016), Bd. 127, H. 8, S. 997-1006

Verlagsangabe:

Amer Soc Hematology

Language:

English

Full text:

http://dx.doi.org/10.1182/blood-2015-09-671636

ISSN:

1528-0020