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HPS Gene Mutations in Hermansky-Pudlak Syndrome

✍ Scribed by Richard A. Spritz; Jangsuk Oh


Book ID
117852721
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
51 KB
Volume
64
Category
Article
ISSN
0002-9297

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## Communicated by A. Jamie Cuticchia Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder characterized by oculocutaneous albinism and prolonged bleeding due to abnormal vesicle trafficking to lysosomes and related organelles such as melanosomes and platelet dense granules. Thi