Interlaboratory Development and Validation of a HRM Method Applied to the Detection of JAK2 Exon 12 Mutations in Polycythemia Vera Patients

@inproceedings{Ugo2010InterlaboratoryDA,
  title={Interlaboratory Development and Validation of a HRM Method Applied to the Detection of JAK2 Exon 12 Mutations in Polycythemia Vera Patients},
  author={Val{\'e}rie Ugo and Sylvie Tondeur and Marie-Laurence Menot and Nadine Bonnin and Gerald Le Gac and Carole Tonetti and V{\'e}ronique Mansat-De Mas and Lydie Lecucq and Jean-Jacques Kiladjian and Christine Chomienne and Christine C Dosquet and Nathalie Parquet and Luc Darnige and Marc Porneuf and Martine Escoffre-Barbe and St{\'e}phane Giraudier and Eric C M Delabesse and Bruno Cassinat},
  booktitle={PloS one},
  year={2010}
}
BACKGROUND Myeloproliferative disorders are characterized by clonal expansion of normal mature blood cells. Acquired mutations giving rise to constitutive activation of the JAK2 tyrosine kinase has been shown to be present in the majority of patients. Since the demonstration that the V617F mutation in the exon 14 of the JAK2 gene is present in about 90% of patients with Polycythemia Vera (PV), the detection of this mutation has become a key tool for the diagnosis of these patients. More… CONTINUE READING

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