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Article

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

Journal of clinical pathology - 1 Dec 2018

Arun A Kumar, Senthamizhselvi Anandan, Hemamalini Suresh, Edison Eunice S, Korula Anu, Fouzia N A, George Biju, Mathews Vikram, Balasubramanian Poonkuzhali

Abstract excerpt

AIMS: Congenital and cyclical neutropenia are rare inherited diseases that result in recurrent life-threatening bacterial infections due to a deficiency of mature neutrophils. Cyclical neutropenia is usually caused by heterozygous ELANE mutations while congenital neutropenia is genetically heterogeneous with mutations in genes like ELANE, HAX-1, G6PC3 and GFI1. The presence of ELANE mutation aids in the...

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Source

Identifiers

PMID: 30171085
DOI: 10.1136/jclinpath-2018-205235

Genes

ELANE
GFI1

Variants

Provenance

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Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.PMID 30171085Read ↗

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[Clinical and genetic analysis of four patients with congenital neutropenia].Semantic proximity Read ↗

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

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Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review.Semantic proximity Read ↗

De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.Semantic proximity Read ↗

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

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