Article
Description of a novel Janus kinase 3 P132A mutation in acute megakaryoblastic leukemia and demonstration of previously reported Janus kinase 3 mutations in normal subjects.
Leukemia & lymphoma - 1 Sept 2011
Riera Ludovica, Lasorsa Elena, Bonello Lisa, Sismondi Francesca, Tondat Fabrizio, Di Bello Cristiana, Di Celle Paola Francia, Chiarle Roberto, Godio Laura, Pich Achille, Facchetti Fabio, Ponzoni Maurilio, Marmont Filippo, Zanon Carlo, Bardelli Alberto, Inghirami Giorgio
Abstract excerpt
Gain-of-function (GOF) mutations of Janus kinase 2 (JAK2) are frequently seen in myeloproliferative disorders (MPDs). Meanwhile, JAK3 activating substitutions have been found in a few megakaryocytic cell lines and in primary myeloid leukemia (AMKL). Here, we sought to discover novel leukemogenetic mutations in de novo acute myeloid leukemia of non-Down syndrome (N-DS) by DNA sequencing. A total of 191 normal...
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