Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

Table 2

Platelet aggregation assay for the family members.

Family member	ADP (%)	EPI (%)	Coll (%)	ACA (%)
IV-3	82.6	48.2	7.2	60.3
IV-1	74.4	80.3	78.1	80.1
IV-4	70.6	66.6	85.6	83.8
V-1	84.4	78.4	79.9	74.4

ADP: adenosine diphosphate; EPI: epinephrine; Coll: collagen; ACA: arachidonic acid.