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Article

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

British journal of haematology - 1 Nov 2009

Xia Jun, Bolyard Audrey A, Rodger Elin, Stein Steve, Aprikyan Andrew A, Dale David C, Link Daniel C

Abstract excerpt

Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated with mutations of ELANE (ELA2), HAX1, GFI1, WAS, CSF3R or G6PC3. We investigated the prevalence of mutations of ELANE in a cohort of 162 SCN patients for whom blood or bone marrow samples were submitted to the North American Severe Chronic Neutropenia Tissue Repository. Mutations of ELANE were found in 90 of 162 patients...

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Source

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Identifiers

PMID: 19775295
DOI: 10.1111/j.1365-2141.2009.07888.x
PMCID: PMC2783282

Genes

ELANE
GFI1
HAX1
SBDS

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.PMID 19775295Read ↗

Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing.Semantic proximity Read ↗

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.Semantic proximity Read ↗

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

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

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

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

Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations).Semantic proximity Read ↗

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

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Novel genetic etiologies of severe congenital neutropenia.Semantic proximity Read ↗

A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.Semantic proximity Read ↗

Digenic mutations in severe congenital neutropenia.Semantic proximity Read ↗

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