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Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1

✍ Scribed by Ekaterini T Tsilou; Benjamin I Rubin; George F Reed; Lessie McCain; Marjan Huizing; James White; Muriel I Kaiser-Kupfer; William Gahl


Book ID
116802985
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
268 KB
Volume
111
Category
Article
ISSN
0161-6420

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Hermansky–Pudlak syndrome type 4 in a pa
✍ Esther B. Bachli; Thomas Brack; Elisabeth Eppler; Thomas Stallmach; Ralph M. Trü 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 426 KB 👁 1 views

## 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__,