F5-Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV-short production.
Karen L ZimowskiTeodolinda PetrilloMichelle D HoJulie WechslerJordan E ShieldsGabriela DenningNavdeep JhitaAngel A RiveraMiguel A EscobarChristine L KemptonRodney M CamireChristopher B DoeringPublished in: Journal of thrombosis and haemostasis : JTH (2021)
These findings support a mechanistic model consisting of cis-acting regulatory sequences encoded within F5 exon 13 that control alternative splicing at the ET splice sites and thereby regulate circulating FV-short and TFPIα levels.
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