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

Title
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
Authors
Keywords
-
Journal
BLOOD
Volume 127, Issue 8, Pages 997-1006
Publisher
American Society of Hematology
Online
2016-01-08
DOI
10.1182/blood-2015-09-671636

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