Article

Paternal germline mosaicism of a missense mutation in ELANE in a Chinese male with severe congenital neutropenia

2024-01-31

Abstract excerpt

<h4>Background: </h4> Severe congenital neutropenia (SCN) is an autoimmune disease clinically characterized by persistent and severe neutropenia. It is typically caused by a heterozygous mutation in the ELANE gene, which encodes neutrophil elastase. Procedure: Using one 3-year-old male diagnosed with severe congenital neutropenia, we aimed to assess the clinical and genetic characteristics of SCN caused by ELANE m...

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Literature Corpus work: 75f2e7e9-c346-5bf9-b537-f8a12a744b78
DOI: 10.22541/au.170668436.66402035/v1

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