2% Haemophilia a patients without mutation in the FVIII gene;2% Hämophilie-a-patienten ohne mutation im FVIII-gen

Hamostaseologie

Volumn 23, Issue 1, 2003, Pages 1-5

  Uen, C ^a   Oldenburg, J ^b,c   Schroder J ^b   Brackmann, H J ^d   Schramm, W ^e   Schwaab, R ^d   Schneppenheim, R ^f   Graw, Jochen ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c Inst Transfusionsmed/Immunhamatol   (Germany)

^d UNIVERSITY OF BONN   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Haemophilia A

Indexed keywords

BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

AMINO ACID SUBSTITUTION; DNA POLYMORPHISM; EXON; FACTOR VIII GENE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HEMOPHILIA A; HUMAN; INTRON; PHENOTYPE; REVIEW; SCREENING; SEQUENCE ANALYSIS; STOP CODON;

EID: 17144461722     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1619567     Document Type: Review

References (9)

1. 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.
2. 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.
3. Brinke A, Tagliavacca L, Naylor J, Green P, Giangrande P, Gianelli F. Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia. Hum Mol Genet 1996; 5: 1945-51.
4. Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, Vehar GA, Capon DJ, Lawn RM. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
5. Klopp N, Oldenburg J, Uen C, Brackmann H-J, Schneppenheim R, Schramm W, Schwaab R, Graw J. 11 hemophilia A patients without mutations in the entire factor VIII encoding gene. Thromb Haemost 2002; 88: 357-60.
6. Lakich D, Kazazian HH jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A. Nat Genet 1993; 5: 236-41.
7. Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek O. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 2001; 69: 75-87.
8. 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 Haemost 1996; 76: 598-602.
9. 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 mutations. Thromb Haemost 2001; 85: 580-3.