Article
Rapid and sensitive detection of calreticulin type 1 and 2 mutations by real-time quantitative PCR.
Molecular diagnosis & therapy - 1 Oct 2015
Zinke Michael, Nageswaran Vanasa, Reinhardt Richard, Burmeister Thomas
Abstract excerpt
BACKGROUND: The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin (CALR) gene. These mutations are located in CALR exon 9 and lead to a frameshift with subsequent alteration of the CALR protein C-terminus. They have emerged as valuable molecular markers for the diagnosis of clonal myeloproliferative diseases. Although a...
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