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Article

Four novel ELANE mutations in patients with congenital neutropenia.

Pediatric blood & cancer - 1 Aug 2011

Kurnikova Maria, Maschan Michael, Dinova Evgeniya, Shagina Irina, Finogenova Natalia, Mamedova Elena, Polovtseva Tatyana, Shagin Dmitry, Shcherbina Anna

Abstract excerpt

Congenital neutropenia is a heterogeneous bone marrow failure syndrome characterized by a maturation arrest of myelopoesis at the promyelocyte/myelocyte stage. Cyclic neutropenia (CyN) and severe congenital neutropenia (SCN) are two main forms of congenital neutropenia. Genetic analysis has shown that heterozygous mutations in the ELANE gene encoding the neutrophil elastase are the major cause of these disorders....

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Source

Identifiers

PMID: 21425445
DOI: 10.1002/pbc.23104

Genes

ELANE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Four novel ELANE mutations in patients with congenital neutropenia.PMID 21425445Read ↗

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.Semantic proximity Read ↗

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.Semantic proximity Read ↗

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.Semantic proximity Read ↗

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.Semantic proximity Read ↗

Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.Semantic proximity Read ↗

Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.Semantic proximity Read ↗

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia.Semantic proximity Read ↗

Neutrophil elastase mutations in congenital neutropenia.Semantic proximity Read ↗

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.Semantic proximity Read ↗

[Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation].Semantic proximity Read ↗

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.Semantic proximity Read ↗

Severe congenital neutropenias.Semantic proximity Read ↗

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