Research Article
Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
Table 1
TEG platelet mapping assay for the family members.
| | Family member | (min) | (min) | Angle (°) | MA (mm) | (d/sc) | EPL (%) | LY30 (%) | A_MA (mm) | AA_MA (mm) | AA (%) | ADP_MA (mm) | ADP (%) |
| | IV-3 | 8.4 | 3.9 | 43.7 | 57.5 | 6764 | 0.1 | 0.1 | 2.7 | 14.3 | 78.8 | 14.7 | 78.1 | | IV-1 | 6.5 | 2.1 | 61.1 | 67.3 | 10278 | 0.1 | 0.4 | 6.1 | 38 | 47.9 | 40.8 | 43.3 | | IV-4 | 5.5 | 2.1 | 65.1 | 62.9 | 8465 | 0.1 | 0.3 | 4.5 | 38.6 | 41.6 | 27.7 | 60.3 | | V-1 | 7.8 | 1.9 | 58.8 | 57.5 | 6758 | 0.1 | 0.1 | 9.3 | 34.3 | 48.1 | 36.6 | 43.4 |
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AA: arachidonic acid; ADP: adenosine diphosphate.
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