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Article

Characterization of mutant neutrophil elastase in severe congenital neutropenia.

The Journal of biological chemistry - 27 Apr 2001

Li F Q, Horwitz M

Abstract excerpt

Severe congenital neutropenia is a heritable human disorder characterized by neutropenia and acute myelogenous leukemia. We recently determined that the majority of cases result from de novo or autosomal dominantly inherited heterozygous mutations in ELA2, encoding neutrophil elastase. Neutrophil elastase is a chymotryptic serine protease localized in granules of neutrophils and monocytes and is the major target...

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Identifiers

PMID: 11278653
DOI: 10.1074/jbc.M010279200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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