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Article

F5-Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV-short production.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2021

Zimowski Karen L, Petrillo Teodolinda, Ho Michelle D, Wechsler Julie, Shields Jordan E, Denning Gabriela, Jhita Navdeep, Rivera Angel A, Escobar Miguel A, Kempton Christine L, Camire Rodney M, Doering Christopher B

Abstract excerpt

BACKGROUND: Elucidating the molecular pathogenesis underlying East Texas bleeding disorder (ET) led to the discovery of alternatively spliced F5 transcripts harboring large deletions within exon 13. These alternatively spliced transcripts produce a shortened form of coagulation factor V (FV) in which a large portion of its B-domain is deleted. These FV isoforms bind tissue factor pathway inhibitor alpha (TFPIα)...

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PMID: 33773040
DOI: 10.1111/jth.15314

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