Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation

• References

• 1 Bicocchi MP, Pasino M, Lanza T. et al Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. Am J Hematol. 2004 in press
• 2 Kemball-Cook G, Tuddenham EG, Wacey I A. The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.. Nucleic Acids Res 1998; 26: 216-9.
• 3 Ganguly A, Dunbar T, Chen P. et al Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.. Hum Genet 2003; 113: 348-52.
• 4 Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.. Hum Genet 1992; 90: 41-54.
• 5 Nakai K, Sakamoto H. Construction of a novel database containing aberrant splicing mutations of mammalian genes.. Gene 1994; 141: 171-7.
• 6 Robberson BL, Cote GJ, Berget SM. Exon definition may facilitate splice site selection in RNAs with multiple exons.. Mol Cell Biol 1990; 10: 84-94.
• 7 Anwar R, Miloszewski KJ, Markham AF. New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance.. Thromb Haemost 1998; 79: 1151-6.
• 8 Mikkola H, Muszbek L, Laiho E. et al Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.. Blood 1997; 89: 1279-87.
• 9 Ozkara HA, Sandhoff K. A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase alpha-subunit gene affects splicing.. Brain Dev 2003; 25: 203-6.
• 10 Tavassoli K, Eigel A, Pollmann H. et al Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.. Hum Genet 1997; 100: 508-11.
• 11 Stoilova-McPhie S, Villoutreix BO, Mertens K. et al 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography.. Blood 2002; 99: 1215-23.
• 12 Jones TA, Zou JY, Cowan SW. et al Improved methods for building protein models in electron density maps and the location of errors in these models.. Acta Crystallogr A 1991; 47: 110-9.
• 13 Nogami K, Shima M, Nishiya K. et al A novel mechanism of factor VIII protection by von Willebrand factor from activated protein C-catalyzed inactivation.. Blood 2002; 99: 3993-8.