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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Detalles Bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado:	Taylor & Francis Group 2021-08-01
Series:	Platelets
Assuntos:	acute lymphoblastic leukemia etv6 myeloproliferative neoplasm second hit
Acceso en liña:	http://dx.doi.org/10.1080/09537104.2020.1802416
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