Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers

  • Dutta D
  • Gunasekera D
  • Ragni M
  • et al.
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Abstract

Improved assays to detect intron 22 and intron 1 inversions in the F8 gene have been developed. These assays can efficiently detect or rule out the most common genetic mutations resulting in hemophilia A.

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Dutta, D., Gunasekera, D., Ragni, M. V., & Pratt, K. P. (2016). Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers. Blood Advances, 1(3), 231–239. https://doi.org/10.1182/bloodadvances.2016001651

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