F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Alessio Branchini Massimo Morfini Barbara LunghiDonata BelviniPaolo RadossiLoredana BuryMaria Luisa SerinoPaola GiordanoDorina CultreraAngelo Claudio Molinari Mariasanta Napolitano Elisabetta Bigagli Giancarlo Castaman Mirko Pinotti Francesco Bernardinull null

Published in: Journal of thrombosis and haemostasis : JTH (2021)

FIX activity and antigen levels and specific features of the dysfunctional R191/R226 variants may exert pleiotropic effects both on HB patients' phenotypes and substitutive treatment.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
prognostic factors
gene expression
patient reported outcomes
dna methylation
combination therapy
genome wide