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Identification of MPL R102P Mutation in Hereditary Thrombocytosis

20 Sept 2017

Abstract excerpt

The molecular basis of hereditary thrombocytosis are germline mutations affecting the thrombopoietin (TPO)/TPO receptor (MPL)/JAK2 signaling axis. Here, we report one family presenting two cases with a mild thrombocytosis. By sequencing JAK2 and MPL coding exons, we identified a germline MPL R102P heterozygous mutation in the proband and his daughter. Concomitantly, we detected high TPO levels in the serum of...

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Identifiers

PMID: 28979237
DOI: 10.3389/fendo.2017.00235

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