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Hermansky-pudlak syndrome in Turkey

✍ Scribed by S. Özsoylu; G. Hiçsönmez

Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
39 KB
Volume
28
Category
Article
ISSN
0361-8609

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## Abstract Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis. Six human genes __HPS1__, __ADB3A__, __HPS3__,