( a)
DESCRIPTION
( 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 PresentationTRANSCRIPT
( 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)