Genetic variants associated with Hermansky-Pudlak syndrome

Genetic variants associated with Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency, oculocutaneous albinism, inflammatory bowel disease, neut...

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Bibliographic Details
Main Authors: Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico
Format: Article
Language:English
Published: Taylor & Francis Group 2020-05-01
Series:Platelets
Subjects:
hermansky-pudlak syndrome
platelet delta granule
Online Access:http://dx.doi.org/10.1080/09537104.2019.1663810

Internet

http://dx.doi.org/10.1080/09537104.2019.1663810

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