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Keyword - Hermansky-Pudlak syndrome (KW-0363)

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Protein which, if defective, causes Hermansky-Pudlak syndrome, a rare autosomal recessive disorder characterized by oculocutaneous albinism and storage pool deficiency due to an absence of platelet dense bodies. Lysosomal ceroid lipofuscinosis, pulmonary fibrosis and granulomatous colitis are occasional manifestations of the disease.


  • HPS




Hermansky-Pudlak syndromeDiseaseAlbinism
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