Article
Homozygous calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency.
Blood - 23 Jun 2016
Theocharides Alexandre P A, Lundberg Pontus, Lakkaraju Asvin K K, Lysenko Veronika, Myburgh Renier, Aguzzi Adriano, Skoda Radek C, Manz Markus G
Abstract excerpt
The pathogenesis of acquired myeloperoxidase (MPO) deficiency, a rare phenomenon observed in patients with Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), is unknown. MPO is a glycoprotein (GP) chaperoned by calreticulin (CALR) in the endoplasmic reticulum. Mutations in CALR are frequently found in patients with myelofibrosis (MF) and essential thrombocythemia (ET) with nonmutated Janus...
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