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
10.1182/blood-2015-09-671636
Blood
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author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26744459/
Adaptor Protein Complex 3 / genetics Adaptor Protein Complex delta Subunits / genetics Hermanski-Pudlak Syndrome / classification Hermanski-Pudlak Syndrome / genetics Immunologic Deficiency Syndromes / genetics Seizures / genetics
Adaptor Protein Complex 3 / genetics Adaptor Protein Complex delta Subunits / genetics Hermanski-Pudlak Syndrome / classification Hermanski-Pudlak Syndrome / genetics Immunologic Deficiency Syndromes / genetics Seizures / genetics Case Reports Research Support, Non-U.S. Gov't Electrophoresis, Polyacrylamide Gel Fluorescent Antibody Technique Humans Mutation Transfection AP3D1 protein, human Adaptor Protein Complex 3 Adaptor Protein Complex delta Subunits
PMC7611501
26744459
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
2016