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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Автори:	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
Формат:	Artigo
Мова:	Inglês
Опубліковано:	Taylor & Francis Group 2021-08-01
Серія:	Platelets
Предмети:	acute lymphoblastic leukemia etv6 myeloproliferative neoplasm second hit
Онлайн доступ:	http://dx.doi.org/10.1080/09537104.2020.1802416
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