Article
Validation of standards for quantitative assessment of JAK2 c.1849G>T (p.V617F) allele burden analysis in clinical samples.
Genetic testing and molecular biomarkers - 1 May 2013
Collier Paul, Patel Keyur, Waeltz Paul, Rupar Mark, Luthra Rajyalakshmi, Liu Phillip C C, Hollis Gregory, Huber Reid, Verstovsek Srdan, Burn Timothy C
Abstract excerpt
The substitution of valine with phenylalanine at amino acid 617 of the Janus kinase 2 (JAK2) gene (JAK2 p.V617F) occurs in a high proportion of patients with myeloproliferative neoplasms (MPNs). The ability to accurately measure JAK2 p.V617F allele burden is of great interest given the diagnostic relevance of the mutation and the ongoing clinical evaluation of JAK inhibitors. A main hurdle in developing...
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