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Article

c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation.

The Journal of molecular diagnostics : JMD - 1 May 2005

Yanagihori Hirokatsu, Oyama Noritaka, Nakamura Koichiro, Kaneko Fumio

Abstract excerpt

Mastocytosis represents a clonal proliferation of mast cell hematopoietic progenitors caused by gain-of-function mutations of the c-kit gene. The heterogeneity of c-kit mutations may have contributed to difficulties in characterizing genotype-phenotype correlation of the disease. Our goal was to...

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Identifiers

PMID: 15858149
DOI: 10.1016/S1525-1578(10)60552-1
PMCID: PMC1867517

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15858149-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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