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Innate immunity defects in Hermansky-Pudlak type 2 syndrome

1 Mar 2006

Abstract excerpt

Adaptor protein-3 (AP-3) is an ubiquitous cytoplasmic complex that shuttles cargo proteins from the trans-Golgi and a tubular-endosomal compartment to endosome-lysosome-related organelles. Lack of the beta3A subunit of this complex causes Hermansky-Pudlak syndrome type 2, an autosomal recessive disease characterized by partial albinism, prolonged bleeding tendency, and immunodeficiency. To investigate the...

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PMID: 16507770
DOI: 10.1182/blood-2005-11-4398

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