ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism

Journal

Haematologica-The Hematology Journal

Author(s)

Faleschini Michela

Ammeti Daniele

Nicole Papa

Caterina Alfano

Bottega Roberta

FONTANA GIORGIA

ZANCHETTA MELANIA EVA

Federico Pozzani

Francesca Montanari

Valeria Petroni

Paola Giordano

Patrizia Noris

Fiorina Giona

DOI

10.3324/haematol.2022.280729

Project(s)

Molecular screening of Inherited Thrombocytopenias and developmental of gene specific functional assays for the characterization of pathogenetic variants: models for the study of THPO, TUBB1, ACTN1 and GFI1B mutations