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Article

Ela2 mutations and clinical manifestations in familial congenital neutropenia.

Journal of pediatric hematology/oncology - 1 May 2009

Shiohara Masaaki, Shigemura Tomonari, Saito Shoji, Tanaka Miyuki, Yanagisawa Ryu, Sakashita Kazuo, Asada Hiroshi, Ishii Eizaburo, Koike Kazutoshi, Chin Motoaki, Kobayashi Masao, Koike Kenichi

Abstract excerpt

PURPOSE: Three familial cases of each of severe congenital neutropenia (SCN) and cyclic neutropenia (CN) in addition to 3 sporadic cases of SCN were analyzed for neutrophil elastase (Ela2) gene mutation. The contents of the neutrophil-specific granule proteins cathelicidin antimicrobial peptide and neutrophil gelatinase-associated lipocalin were also analyzed in SCN. METHODS: Genomic DNA was extracted from the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19415009
DOI: 10.1097/MPH.0b013e3181984dbe

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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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