Allele Specific PCR: A Cost Effective Screening Method for MPL Mutations in Myeloproliferative Neoplasms

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MPL W515L/K Mutations in Chronic Myeloproliferative Neoplasms

OBJECTIVE The MPL gene encodes the thrombopoietin receptor. Recently MPL mutations (MPL W515L or MPL W515K) were described in patients with essential thrombocythemia (ET) and primary (idiopathic) myelofibrosis (PMF). The prevalence and the clinical importance of these mutations are not clear. In the present study, we aimed to investigate the frequency and clinical significance of MPL W515L/K mu...

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Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.

Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. We used direct sequencing and high-resolution melt analysis to identify mutations of MPL exon 10 in 570 patients with myeloproliferative neoplasms, and allele specific PCR and deep sequencing to further characteri...

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ژورنال

عنوان ژورنال: Indian Journal of Hematology and Blood Transfusion

سال: 2018

ISSN: 0971-4502,0974-0449

DOI: 10.1007/s12288-018-0982-5