Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome

    December 2016 in “ Blood
    Haiyu Zhang, Yu Hou, Rondeep Brar, Bing Zhang, Zhenping Chen, Parveen Abidi, Jing Jin, Jason Gotlib, James L. Zehnder
    Studysummary This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
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