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Article

KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis.

The Journal of allergy and clinical immunology - 1 Sept 2013

Broesby-Olsen Sigurd, Kristensen Thomas, Vestergaard Hanne, Brixen Kim, Møller Michael Boe, Bindslev-Jensen Carsten

Abstract excerpt

BACKGROUND: Clinical manifestations of indolent systemic mastocytosis (ISM) comprise mediator-related symptoms, anaphylaxis, and osteoporosis. A new sensitive method for KIT D816V mutation detection allows quantification of the level of mutation-positive cells. OBJECTIVE: To investigate whether the fraction of KIT D816V positive cells in peripheral blood (PB) or bone marrow (BM) aspirate in adult patients with...

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Identifiers

PMID: 23587333
DOI: 10.1016/j.jaci.2013.02.019

Genes

KIT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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