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Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

Blood - 1 Jun 2004

Bellanné-Chantelot Christine, Clauin Séverine, Leblanc Thierry, Cassinat Bruno, Rodrigues-Lima Fernando, Beaufils Sandrine, Vaury Christelle, Barkaoui Mohamed, Fenneteau Odile, Maier-Redelsperger Micheline, Chomienne Christine, Donadieu Jean

Abstract excerpt

Heterozygous mutations of the gene encoding neutrophil elastase (ELA2) have been associated with cyclic neutropenia (CN) and severe congenital neutropenia (SCN). To date, 30 different mutations have been reported, but no correlation has been found with the degree of neutropenia. To address this i...

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Identifiers

PMID: 14962902
DOI: 10.1182/blood-2003-10-3518

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-14962902-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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