Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients
D. E. Fransen van de Putte
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorW. S. Frankhuizen
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorL. Vijfhuizen
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorL. Groenewegen
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorR. Y. J. Tamminga
University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen, Groningen, The Netherlands
Search for more papers by this authorK. Bouman
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Search for more papers by this authorA. J. van Essen
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Search for more papers by this authorA. C. J. Gijsbers
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorC. A. L. Ruivenkamp
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorCorresponding Author
E. M. J. Boon
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Correspondence: Elles M. J. Boon, PhD, Department of Clinical Genetics, Leiden University Medical Center, LDGA – building 2, Post zone S-06-P, PO Box 9600, 2300 RC Leiden, The Netherlands.
Tel.: +31 71 5269810; fax: +31 71 5268276;
e-mail: [email protected]
Search for more papers by this authorD. E. Fransen van de Putte
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorW. S. Frankhuizen
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorL. Vijfhuizen
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorL. Groenewegen
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorR. Y. J. Tamminga
University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen, Groningen, The Netherlands
Search for more papers by this authorK. Bouman
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Search for more papers by this authorA. J. van Essen
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Search for more papers by this authorA. C. J. Gijsbers
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorC. A. L. Ruivenkamp
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Search for more papers by this authorCorresponding Author
E. M. J. Boon
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Correspondence: Elles M. J. Boon, PhD, Department of Clinical Genetics, Leiden University Medical Center, LDGA – building 2, Post zone S-06-P, PO Box 9600, 2300 RC Leiden, The Netherlands.
Tel.: +31 71 5269810; fax: +31 71 5268276;
e-mail: [email protected]
Search for more papers by this author
References
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- 3Plug I, Mauser-Bunschoten EP, Brocker-Vriends AH et al. Bleeding in carriers of hemophilia. Blood 2006; 108: 52–6.
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- 8Lannoy N, Grisart B, Eeckhoudt S et al. Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene. Eur J Hum Genet 2013; 21: 970–6.
- 9Green P, Hill M, Bowen DJ. Duplications involving int22h-1 of the factor VIII gene: a cause for concern in genetic testing for hemophilia A? J Thromb Haemost 2007; 5: 2155–6.
- 10Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 2008; 6: 830–6.
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