Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations.

@article{Bench2013MolecularDO,
  title={Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations.},
  author={Anthony J. Bench and H. P. Esmonde White and Letizia Foroni and Anna L. Godfrey and Gareth Gerrard and Susanna Akiki and Abida Awan and Ian Carter and Andrea Goday-Fern{\'a}ndez and Stephen E Langabeer and Tim Clench and Jordan D. Clark and P Andrew Evans and David J Grimwade and Anna Schuh and Mary Frances McMullin and Anthony R Green and Claire N Harrison and Nicholas C P Cross},
  journal={British journal of haematology},
  year={2013},
  volume={160 1},
  pages={25-34}
}
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm. A wide choice of techniques are available for the detection of these mutations, leading to potential difficulties for clinical laboratories in deciding upon the most appropriate assay, which… CONTINUE READING
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