Article
A novel molecular assay using hybridisation probes and melt curve analysis for CALR exon 9 mutation detection in myeloproliferative neoplasms.
Journal of clinical pathology - 1 Aug 2017
Keaney Thomas, O'Connor Louise, Krawczyk Janusz, Abdelrahman Moutaz A, Hayat Amjad H, Murray Margaret, O'Dwyer Michael, Percy Melanie, Langabeer Stehpen, Haslam Karl, Glynn Barry, Mullen Ciara, Keady Evelyn, Lahiff Sinéad, Smith Terry J
Abstract excerpt
AIMS: Somatic insertions/deletions in exon 9 of the calreticulin gene have been identified in patients with essential thrombocythemia and primary myelofibrosis. Over 55 mutations have been discovered, 80% of which consist of either type 1 52-bp deletion or type 2 5-bp insertion. Other mutations (types 3-5) in conjunction with types 1 and 2 account for >87% of identified mutations. The aim of this study was...
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