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Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Haematologica - 1 Feb 2018

Donadon Irving, McVey John H, Garagiola Isabella, Branchini Alessio, Mortarino Mimosa, Peyvandi Flora, Bernardi Francesco, Pinotti Mirko

Abstract excerpt

Dissection of pleiotropic effects of missense mutations, rarely investigated in inherited diseases, is fundamental to understanding genotype-phenotype relationships. Missense mutations might impair mRNA processing in addition to protein properties. As a model for hemophilia A, we investigated the highly prevalent F8 c.6046c>t/p.R2016W (exon 19) mutation. In expression studies exploiting lentiviral vectors, we...

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Identifiers

PMID: 29170251
DOI: 10.3324/haematol.2017.178327
PMCID: PMC5792279

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