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Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

Blood - 1 Oct 2000

Dale D C, Person R E, Bolyard A A, Aprikyan A G, Bos C, Bonilla M A, Boxer L A, Kannourakis G, Zeidler C, Welte K, Benson K F, Horwitz M

Abstract excerpt

Congenital neutropenia and cyclic neutropenia are disorders of neutrophil production predisposing patients to recurrent bacterial infections. Recently the locus for autosomal dominant cyclic neutropenia was mapped to chromosome 19p13.3, and this disease is now attributable to mutations of the gene encoding neutrophil elastase (the ELA2 gene). The authors hypothesized that congenital neutropenia is also due to...

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Share to Bone Marrow Cells
Share to Chromosomes, Human, Pair 19

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 11001877

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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