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Hermansky-Pudlak Syndrome

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Hermansky-Pudlak Syndrome
Genetic deficiencies of α-granules or dense granules cause congenital bleeding disorders termed storage pool deficiencies (SPDs). For example, in Hermansky–Pudlak syndrome, the absence of platelet dense granules can cause bleeding diathesis. In addition, melanosomes fail to mature within melanocytes can cause albinism; some patients also develop granulomatous colitis or a fatal pulmonary fibrosis. (Proteomic analysis of platelet α-granules using mass spectrometry. Journal of Thrombosis and
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