The Hemophilias — From Royal Genes to Gene Therapy
2001; Massachusetts Medical Society; Volume: 344; Issue: 23 Linguagem: Inglês
10.1056/nejm200106073442307
ISSN1533-4406
AutoresPier Mannuccio Mannucci, Edward G. D. Tuddenham,
Tópico(s)Blood Coagulation and Thrombosis Mechanisms
ResumoOf the various types of hemophilia, the most common of these lifelong bleeding disorders are due to an inherited deficiency of factor VIII or factor IX (Table 1). The genes for these blood coagulation factors lie on the X chromosome, and when mutated, they cause the X-linked recessive traits hemophilia A and B. Since these disorders are X-linked, they usually occur in males. Usually, the affected boy has inherited the mutant gene (XH ) from his carrier mother (X H/X ), but about 30 percent of cases arise from a spontaneous mutation, and there is . . .
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