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Article

Hereditary neutropenia: dogs explain human neutrophil elastase mutations.

Trends in molecular medicine - 1 Apr 2004

Horwitz Marshall, Benson Kathleen F, Duan Zhijun, Li Feng-Qian, Person Richard E

Abstract excerpt

Mutations in ELA2, the gene encoding neutrophil elastase (NE), cause the human diseases cyclic neutropenia (CN) and severe congenital neutropenia (SCN). Numerous mutations are known, but their lack of consistent biochemical effect has proven puzzling. The recent finding that mutation of AP3B1, wh...

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Source

Identifiers

PMID: 15059607
DOI: 10.1016/j.molmed.2004.02.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15059607-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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