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Thromb Haemost 1997; 78(04): 1303
DOI: 10.1055/s-0038-1657738
DOI: 10.1055/s-0038-1657738
Letter to the Editor
Another Variant Pattern of Intron 22 Inversion in the Factor VIII Gene Seen in a Severe Haemophilia A Patient
Weitere Informationen
Publikationsverlauf
Received 28. 1997
Accepted after revision 26. Mai 1997
Publikationsdatum:
12. Juli 2018 (online)
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References
- 1 Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half of the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Gene 1993; 2: 1773-1778
- 2 Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of FVm deficiency in haemophilia A. Hum Mut 1995; 5: 01-22
- 3 Windsor S, Taylor SAM, Lillicrap D. Direct detection of a common inversion mutation in the genetic diagnosis of severe haemophilia A. Blood 1994; 84: 2202-2205
- 4 Enayat MS, Theophilus BDM, Williams MD, Hill FGH. Another unique variant pattern of intron 22 rearrangement in factor VIII gene seen in a haemophilia A family. Blood 1995; 85: 2639
- 5 Naylor JA, Nicholson P, Goodeve A, Hassock S, Peake I, Giannelli F. A novel DNA inversion causing severe haemophilia A. Blood 1996; 87: 3255-3261
- 6 Schröder W, Wehnert M, Herrmann FH. Intron 22 of factor VIE gene - A hot spot for structural aberrations causing severe haemophilia A. Blood 1996; 87: 3067-3068