Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts.

Fanny LassalleO MarmontelC ZawadzkiM FretignyP BouvagnetC Vinciguerra

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2018)

This study supports a founder effect for these two variants in the two largest reported cohorts of haemophilia patients with an identical variant. These pathogenic variants are among the three most early reported variants in haemophilia.

Keyphrases

copy number
genome wide
gene expression