Splicing analysis of 26 F8 nucleotide variations using a minigene assay.
Yohann JourdyMathilde FretignyChristophe NougierClaude NégrierDominique BozonChristine VinciguerraPublished in: Haemophilia : the official journal of the World Federation of Hemophilia (2019)
The minigene assay herein gave additional evidences for the clinical significance of 21/26 F8 putative splice site mutations. Such investigation should be performed for each F8 putative splice site variation for which no mRNA sample is available, notably to greatly improve the genetic counselling given to female carriers.