Identification of four novel mutations in the factor VIII gene: Three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)

Mutational-screening in the factor VIII

Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation

✍ Katharina Möller-Morlang; Kamiab Tavassoli; Antonin Eigel; Hartmut Pollmann; Jür 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene. The identification and characterization of pathogenic mutations allows the recognition of new mechanisms of functional disturbances of factor VIII. To screen for mutations exons 1-26 of the factor V