Article
Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.
Immunogenetics - 1 Jun 2017
Altmüller Janine, Haenisch Britta, Kawalia Amit, Menzen Markus, Nöthen Markus M, Fier Heide, Molderings Gerhard J
Abstract excerpt
Mast cell activation syndrome (MCAS) and systemic mastocytosis (SM) are two clinical systemic mast cell activation disease variants. Few studies to date have investigated the genetic basis of MCAS. The present study had two aims. First, to investigate whether peripheral blood leukocytes from MCAS patients also harbor somatic mutations in genes implicated in SM using next-generation sequencing (NGS) technology and...
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