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Article

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Human mutation - 1 Jun 2013

Germeshausen Manuela, Deerberg Sabine, Peter Yvonne, Reimer Christina, Kratz Christian P, Ballmaier Matthias

Abstract excerpt

Neutrophil elastase gene (ELANE) mutations are responsible for the majority of cases of severe congenital neutropenia (CN) and cyclic neutropenia (CyN). We screened CN (n = 395) or CyN (n = 92) patients for ELANE mutations and investigated the impact of mutations on mRNA expression, protein expression, and activity. We found 116 different mutations in 162 (41%) CN patients and 26 in 51 (55%) CyN patients, 69 of...

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Source

Identifiers

PMID: 23463630
DOI: 10.1002/humu.22308

Genes

ELANE

Provenance

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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The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.PMID 23463630Read ↗

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

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

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

In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.Semantic proximity Read ↗

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