Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non-severe haemophilia A.

Amy DericquebourgMathilde FretignyAlexandre LeuciChristophe ZawadzkiYoann HugueninSabine-Marie CastetYesim DargaudChristine VinciguerraYohann Jourdy

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2023)

The results emphasise the value of whole F8 gene sequencing combined with splicing functional analyses to improve the diagnosis yield for non-severe HA.

Keyphrases

single cell
copy number
genome wide
early onset
genome wide identification
drug induced
dna methylation
gene expression