Investigation of Granulocyte and Platelet Genetic Mutations in Patient C.3202_3222del

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This study focuses on the genetic mutations affecting granulocytes and platelets in patient C.3202_3222del. The patient's genetic code reveals significant deletions, specifically the p.Q1068_L1074.del and p.E1066_A1072.del mutations. These alterations, located in exon 24, are associated with granulocyte and platelet functions. Through detailed sequencing analysis, we aim to understand the implications of these mutations on the patient's health, contributing to the broader understanding of hematological disorders and potential therapeutic strategies.

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Mar 18, 2014

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Investigation of Granulocyte and Platelet Genetic Mutations in Patient C.3202_3222del

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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 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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