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Article

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Hematology/oncology clinics of North America - 1 Feb 2013

Horwitz Marshall S, Corey Seth J, Grimes H Leighton, Tidwell Timothy

Abstract excerpt

The 2 main forms of hereditary neutropenia are cyclic (CN) and severe congenital (SCN) neutropenia. CN is an autosomal dominant disorder in which neutrophil counts fluctuate with 21-day periodicity. SCN consists of static neutropenia, with promyelocytic maturation arrest in the bone marrow. Unlike CN, SCN displays frequent acquisition of somatic mutations in the gene CSF3R. CN is caused by heterozygous mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23351986
DOI: 10.1016/j.hoc.2012.10.004
PMCID: PMC3559001

Genes

ELANE

Provenance

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