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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2020

Liu Hui, Liu Guanghua, Zhao Peiran, Huang Liang, Zhou Youfeng, Qiu Xiaojian, Xu Liangpu

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics of congenital neutropenia caused by ELANE gene mutations. METHODS: Clinical manifestations, absolute blood neutrophil count, high-throughput exome sequencing for mutation screening, suspected locus Sanger sequencing verification, processes of diagnosis and treatment of two patients with congenital neutropenia caused by ELANE gene mutation were retrospectively...

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PMID: 32924109
DOI: 10.3760/cma.j.cn511374-20190922-00487

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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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