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Original Article
Direct detection of hemophilia B F9 gene mutation using multiplex PCR and conformation sensitive gel electrophoresis
Ki Young Yoo, Hee Jin Kim, Kwang Chul Lee
Clin Exp Pediatr. 2010;53(3):397-407.   Published online March 15, 2010
Purpose : The F9 gene is known to be the causative gene for hemophilia B, but unfortunately the detection rate for restriction fragment length polymorphism-based linkage analysis is only 55.6%. Direct DNA sequencing can detect 98% of mutations, but this alternative procedure is very costly. Here, we conducted multiplex polymerase chain reactions (PCRs) and conformation sensitive gel electrophoresis (CSGE) to...
Review Article
Hemophilia
Ki Young Yoo
Clin Exp Pediatr. 2006;49(8):821-829.   Published online August 15, 2006
Hemophilia is the most common coagulation disorder. It has a long history. Hemophilia A is caused by FVIII gene mutation, and hemophilia B by FIX gene mutation. Those genes are located on X chromosome long arm. Bleedings in hemophiliacs predominantly occur in joints and muscles. Because those site are insufficient in tissue factor to induce hemostasis. Among joints knee, ankle...