- Original Article
- Direct detection of hemophilia B F9 gene mutation using
multiplex PCR and conformation sensitive gel electrophoresis
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Ki Young Yoo, Hee Jin Kim, Kwang Chul Lee
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Clin Exp Pediatr. 2010;53(3):397-407. Published online March 15, 2010
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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... |
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- Review Article
- Hemophilia
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Ki Young Yoo
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Clin Exp Pediatr. 2006;49(8):821-829. Published online August 15, 2006
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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... |
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