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Familial Pulmonary Fibrosis in 2 Mexican Sisters With Hermansky-Pudlak Syndrome

✍ Scribed by Ana C. Zamora; Delfino Alonso-Martínez; Lourdes Barrera; Felipe Mendoza; Miguel Gaxiola; Guillermo Carrillo


Book ID
119629186
Publisher
Elsevier Science
Year
2009
Tongue
Spanish
Weight
459 KB
Volume
45
Category
Article
ISSN
0300-2896

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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__,