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: | , , , , |
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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 |