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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
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- 2010.1
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Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor VIII, and in turn the severity of bleeding episodes and development of alloantibodies against factor VIII (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.
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참고문헌 (52)
참고문헌 신청
O'Mahoney B / Global haemophilia care challenge and opportunities: World Federation of Haemophilia
White GC 2nd / 2001 / Definitions in hemophilia. Recommendation of the Scientific Subcommittee on Factor VIII and Factor IX of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis / Thromb Haemost 85:560~560
Lanzkowsky P / 2005 / Manual of pediatric hematology and oncology. 4th ed / Elsevier academic press :312~312
Ehrenforth S / 1992 / Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs / Lancet 71:594~598
Haldane JBS / 1935 / The rate of spontaneous mutation of a human gene / J Genetics 31:317~317
White GC 2nd / 2001 / Definitions in hemophilia. Recommendation of the Scientific Subcommittee on Factor VIII and Factor IX of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis / Thromb Haemost 85:560~560
Lanzkowsky P / 2005 / Manual of pediatric hematology and oncology. 4th ed / Elsevier academic press :312~312
Ehrenforth S / 1992 / Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs / Lancet 71:594~598
Haldane JBS / 1935 / The rate of spontaneous mutation of a human gene / J Genetics 31:317~317
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