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( A). ( B). Healthy control Patient (granulocytes) Patient (platelet) (platelet and granulocyte). ( C). C.3202_3222del (p.Q1068_L1074 del) : Our patient. 3193. 3226. 5´GCC GAG CTC CAG GCC CAG ATC GCG GAG CTC AAG ATG CAG 3´.

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  1. (A) (B) Healthy control Patient (granulocytes) Patient (platelet) (platelet and granulocyte) (C) C.3202_3222del (p.Q1068_L1074 del) : Our patient 3193 3226 5´GCC GAG CTC CAG GCC CAG ATC GCG GAG CTC AAG ATG CAG3´ A E L Q A Q I A E L K M Q 1076 1065 C.3195_3215del (p.E1066_A1072 del): Other two exon 24 deletion mutations* c 5´ GC GAG CTC AAG ATG CAG3´ A E L K M Q g

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