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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Marjorie Poggi, Matthias Canault, Marie Favier, Ernest Turro, Paul Saultier, Dorsaf Ghalloussi, Veronique Baccini, Lea Vidal, Anna Mezzapesa, Nadjim Chelghoum, Badreddine Mohand-Oumoussa, Céline Falaise, Rémi Favier, Willem H Ouwehand, Mathieu Fiore, Franck Peiretti, Pierre Emmanuel Morange, Noémie Saut, Denis Bernot, Andreas Greinacher, Nihr BioResource, Alan T Nurden, Paquita Nurden, Kathleen Freson, David-Alexandre Trégouët, Hana Raslova, Marie-Christine Alessi
May 31, 2018
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA...
Antigens CD34 Blood Cell Count Blood Platelets Cell Differentiation Family Female Gene Expression Regulation Genotype Germ-Line Mutation Hematopoietic Stem Cells Humans Hyperplasia Male Megakaryocytes Pedigree Phenotype Platelet Count Proto-Oncogene Proteins c-ets Repressor Proteins Thrombopoiesis Transcription Genetic