New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient
The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in <i>HPS1-10</i> and their related genes, comprising the biogenesis of lysosome-related organelles complex 1–3 and adapter protei...
Main Authors: | Shinya Kato, Tsugumi Aoe, Akie Hamamoto, Hiroshi Takemori, Toshiya Nishikubo |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2019-05-01
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Series: | Reports |
Subjects: | |
Online Access: | https://www.mdpi.com/2571-841X/2/2/15 |
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