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A novel mutation in a Turkish patient with Hermansky–Pudlak syndrome type 5

✍ Scribed by Lindy-Anne Korswagen; Marjan Huizing; Suat Simsek; Jeroen J.W.M. Janssen; Sonja Zweegman

Book ID
114794354
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
136 KB
Volume
80
Category
Article
ISSN
0902-4441

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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__,