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Article

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

Journal of thrombosis and haemostasis : JTH - 1 Jan 2022

Branchini Alessio, Morfini Massimo, Lunghi Barbara, Belvini Donata, Radossi Paolo, Bury Loredana, Serino Maria Luisa, Giordano Paola, Cultrera Dorina, Molinari Angelo Claudio, Napolitano Mariasanta, Bigagli Elisabetta, Castaman Giancarlo, Pinotti Mirko, Bernardi Francesco

Abstract excerpt

BACKGROUND: Circulating dysfunctional factor IX (FIX) might modulate distribution of infused FIX in hemophilia B (HB) patients. Recurrent substitutions at FIX activation sites (R191-R226, >300 patients) are associated with variable FIX activity and antigen (FIXag) levels. OBJECTIVES: To investigate the (1) expression of a complete panel of missense mutations at FIX activation sites and (2) contribution of...

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Identifiers

PMID: 34626083
DOI: 10.1111/jth.15552
PMCID: PMC9298354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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