Impaired platelet function in Hermansky-Pudlak syndrome associated with novel mutations in <i>HPS3</i>, <i>HPS6</i> and <i>HPS8</i> genes
We report three unrelated cases of Hermansky-Pudlak (HP) characterized by novel mutations in HPS3 (compound heterozygosity for c.1457G>A and c.1813G>T), HPS6 (homozygous c.210_211insGGGCC), and HPS8 (homozygous c.299dupC in BLOC1S3) genes. No spontaneous bleeding tendency was observed despite...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2024-11-01
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| Series: | Bleeding, Thrombosis and Vascular Biology |
| Subjects: | |
| Online Access: | https://www.btvb.org/btvb/article/view/150 |
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