11 Hemophilia A Patients without Mutations in the Factor VIII Encoding Gene

 

^* Present address: GSF-National Research Center for Environment and Health, Institute of Epidemiology, D-85764 Neuherberg, Germany

• References

• 1 Naylor JA, Green PM, Pizza CR, Gianelli F. Analysis of factor VIII mRNA levels reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet 1993; 02: 11-7.
• 2 Lakich D, Kazazian Jr HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A. Nat Genet 1993; 05: 236-41.
• 3 Schwaab R, Oldenburg J, Lalloz MRA, Schwaab U, Pemberton S, Hanfland P, Brackmann H-H, Tuddenham EGD, Michaelides K. Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein. Hum Genet 1997; 101: 323-32.
• 4 Oldenburg J. Mutation profiling in Haemophilia A. Thromb Haemost 2001; 85: 577-9.
• 5 Bagnall RD, Waseem N, Green PM, Gianelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
• 6 Liu ML, Shen BW, Nakaya S, Pratt KP, Fujikawa K, Davie EW, Stoddard BL, Thompson AR. Hemophilic factor VIII C1- and C2-domain missens mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood 2000; 96: 979-87.
• 7 Tarn W-Y, Steitz JA. Pre-mRNA splicing: the discovery of a new spliceosome doubles the challenge. Trends Biochem 1997; 22: 132-7.
• 8 Vidal F, Frassac E, Altisent C, Puig L, Gallardo D. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutation. Thromb Haemost 2001; 85: 580-3.
• 9 Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri H-P, Ciavarella N, Kaufman RJ, Ginsburg D. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998; 93: 61-70.
• 10 Becker J, Schwaab R, Möller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type dependent sex ratio of mutation frequencies. Am J Hum Genet 1996; 58: 657-70.
• 11 Oldenburg J, Schwaab R. Molecular biology of blood coagulation. Sem Thromb Hemost 2001; 27: 313-24.
• 12 Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type I. Thromb Haemostas 1996; 76: 598-602.
• 13 Schneppenheim R, Budde U, Obser T, Brassard J, Mainusch K, Ruggeri ZM, Schneppenheim S, Oldenburg J, Schwaab R. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease. Blood 2001; 97: 2059-66.
• 14 Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 2001; 69: 75-87.