Identification of new F8 deep intronic variations in patients with haemophilia A.

Amy DericquebourgYohann JourdyMathilde FretignyAnne LienhartSégolène ClaeyssensCatherine TernisienPierre BoisseauPierre-Simon RohrlichClaude NégrierChristine Vinciguerra

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2020)

We identified three deep intronic variations, leading to an aberrant mRNA splicing process as HA causing variation.

Keyphrases

binding protein
bioinformatics analysis