Article
The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis.
Annals of hematology - 1 Jan 2014
Erben Philipp, Schwaab Juliana, Metzgeroth Georgia, Horny Hans-Peter, Jawhar Mohamad, Sotlar Karl, Fabarius Alice, Teichmann Martina, Schneider Sven, Ernst Thomas, Müller Martin C, Giehl Michelle, Marx Alexander, Hartmann Karin, Hochhaus Andreas, Hofmann Wolf-Karsten, Cross Nicholas C P, Reiter Andreas
Abstract excerpt
The activating KIT D816V mutation plays a central role in the pathogenesis, diagnosis, and targeted treatment of systemic mastocytosis (SM). For improved and reliable identification of KIT D816V, we have developed an allele-specific quantitative real-time PCR (RQ-PCR) with an enhanced sensitivity of 0.01-0.1 %, which was superior to denaturing high-performance liquid chromatography (0.5-1 %) or conventional...
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