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PCR을 이용한 factor 8 유전자의 XbaI/intron 22 다형성 분석에 의한 혈우병 A의 분자유전학적 진단
최영민 ( Young Min Choi ),박성효 ( Sung Hyo Park ),백고은 ( Ko Eun Back ),최진 ( Jin Choe ),황도영 ( Do Yeong Hwang ),전종관,구승엽 ( Seung Yup Ku ),서창석 ( Chang Suk Suh ),김석현 ( Seok Hyun Kim ),김정구 ( Jung Gu Kim ),문신용,이미란 대한산부인과학회 2003 Obstetrics & Gynecology Science Vol.46 No.4
Objective : To set up the methodology for PCR analysis of XbaI/intron 22 polymorphism of the factor Ⅷ gene, and to identify the usefulness of XbaI/intron 22 polymorphism analysis for carrier detection and prenatal diagnosis of hemophilia A in the Korean p
최영민 ( Young Min Choi ),김은주 ( Eun Joo Kim ),이미란 ( Mi Ran Lee ),손영수 ( Young Soo Son ),최진 ( Jin Choe ),황도영 ( Do Yeong Hwang ),전종관 ( Jong Kwan Jun ),지병철 ( Byung Chul Jee ),구승엽 ( Seung Yup Ku ),서창석 ( Chang 대한산부인과학회 2004 Obstetrics & Gynecology Science Vol.47 No.10
Objective : To identify mutations within the factor Ⅷ gene in Korean patients with severe hemophilia A. Design : A laboratory analysis. Methods : We systematically sequenced the promoter, all exons and splice junctions of factor Ⅷ gene in 23 unrelated Kor