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Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms

A quarter of patients with essential thrombocythemia or primary myelofibrosis carry a driver mutation of CALR, the calreticulin gene. A 52-bp deletion (type 1) and a 5-bp insertion (type 2 mutation) are the most frequent variants. These indels might differentially impair the calcium binding activity...

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Bibliografske podrobnosti
izdano v:Leukemia
Main Authors: Pietra, D, Rumi, E, Ferretti, V V, Buduo, C A Di, Milanesi, C, Cavalloni, C, Sant'Antonio, E, Abbonante, V, Moccia, F, Casetti, I C, Bellini, M, Renna, M C, Roncoroni, E, Fugazza, E, Astori, C, Boveri, E, Rosti, V, Barosi, G, Balduini, A, Cazzola, M
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4740452/
https://ncbi.nlm.nih.gov/pubmed/26449662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/leu.2015.277
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