Article
Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse.
Blood - 1 Jul 1999
Zhen L, Jiang S, Feng L, Bright N A, Peden A A, Seymour A B, Novak E K, Elliott R, Gorin M B, Robinson M S, Swank R T
Abstract excerpt
The pearl mouse is a model for Hermansky Pudlak Syndrome (HPS), whose symptoms include hypopigmentation, lysosomal abnormalities, and prolonged bleeding due to platelet storage pool deficiency (SPD). The gene for pearl has recently been identified as the beta3A subunit of the AP-3 adaptor complex. The objective of these experiments was to determine if the expression and subcellular distribution of the AP-3...
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