Ten novel factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore

Factor VIII mutations in 42 Moldovan hae

Factor VIII mutations in 42 Moldovan haemophilia A families, including 12 that are novel

✍ N. SIROCOVA; V. TSOUREA; M. VICOL; N. BARBACAR; S. M. NAKAYA; A. R. THOMPSON; K. 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 248 KB

Spectrum of mutations in Albanian patien

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene

✍ G. CASTAMAN; S. H. GIACOMELLI; R. GHIOTTO; C. BOSEGGIA; K. POJANI; A. BULO; D. M 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 443 KB

Seven novel and four recurrent point mut

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene

✍ Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dwornicza 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 1 views

Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A.

Seven novel and four recurrent point mut

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene

✍ Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dwornicza 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 1 views

Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A.

The identification and classification of

The identification and classification of 41 novel mutations in the factor VIII gene (F8C)

✍ J.A. Cutler; M.J. Mitchell; M.P. Smith; G.F. Savidge 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 1 views

Hemophilia A is a bleeding disorder caused by a quantitative or qualitative deficiency in the coagulation factor VIII. Causative mutations are heterogeneous in nature and are distributed throughout the FVIII gene. With the exception of mutations that result in prematurely truncated protein, it has p

Thirteen novel mutations in the factor V

Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population

✍ Jorien Boekhorst; Bert Verbruggen; Jean Maurice Lavergne; Jean-Marc Costa; Selen 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB