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COLD-PCR and Innovative Microarray Substrates for Detecting and Genotyping MPL Exon 10 W515 Substitutions
Author(s) -
Angela Brisci,
Francesco Damin,
Daniela Pietra,
Silvia Galbiati,
Sabrina Boggi,
Ilaria Carola Casetti,
Elisa Rumi,
Marcella Chiari,
Mario Cazzola,
Maurizio Ferrari,
Laura Cremonesi
Publication year - 2012
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2012.192708
Subject(s) - genotyping , exon , genetics , biology , microarray , polymerase chain reaction , microbiology and biotechnology , gene , genotype , computational biology , gene expression
Myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Somatic mutations in exon 10 of the MPL (myeloproliferative leukemia virus oncogene) gene, mainly substitutions encoding W515 variants, have recently been described in a minority of patients with ET or PMF. We optimized analytically sensitive methods for detecting and genotyping MPL variants.

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