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

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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´. - PowerPoint PPT Presentation

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( A) ( B)

C.3202_3222del (p.Q1068_L1074 del) : Our patient( C)

1076

5´GCC GAG CTC CAG GCC CAG ATC GCG GAG CTC AAG ATG CAG 3´

3193 3226

1065

A E L Q A Q I A E L K M Q

C.3195_3215del (p.E1066_A1072 del): Other two exon 24 deletion mutations*

5´ GC GAG CTC AAG ATG CAG   3´ A E L K M Q

cg

Healthy control       Patient (granulocytes) Patient (platelet)(platelet and granulocyte)