Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia

Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia

Germline mutations in ETV6 gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of ETV6 W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute lymphoblastic leukemia (ALL) or essential thr...

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Bibliographic Details
Main Authors: Katerina Stano Kozubik, Lenka Radova, Kamila Reblova, Michal Smida, Marketa Zaliova Kubricanova, Jiri Baloun, Michaela Pesova, Zuzana Vrzalova, Frantisek Folber, Sona Mejstrikova, Sarka Pospisilova, Michael Doubek
Format: Article
Language:English
Published: Taylor & Francis Group 2021-08-01
Series:Platelets
Subjects:
acute lymphoblastic leukemia
etv6
myeloproliferative neoplasm
second hit
Online Access:http://dx.doi.org/10.1080/09537104.2020.1802416

Internet

http://dx.doi.org/10.1080/09537104.2020.1802416

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