Article
Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Blood advances - 9 Apr 2024
Seidizadeh Omid, Mollica Luca, Zambarbieri Serena, Baronciani Luciano, Cairo Andrea, Colpani Paola, Cozzi Giovanna, Pagliari Maria Teresa, Ciavarella Alessandro, Siboni Simona M, Peyvandi Flora
Abstract excerpt
ABSTRACT: Four variants have been continuously subjected to debate and received different von Willebrand disease (VWD) classifications: p.R1315L, p.R1315C, p.R1374H, and p.R1374C. We chose to comprehensively investigate these variants with full set of VWD tests, protein-modeling predictions and applying structural biology. Patients with p.R1315L, p.R1315C, p.R1374H, and p.R1374C were included. A group with type...
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