Associated Papers
Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.
Wang K et al.
Medicine, 2026
Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.
Ritter MU et al.
The Crispr Journal, 2024
Neutrophil Elastase Defects in Congenital Neutropenia.
Rydzynska Z et al.
Frontiers in Immunology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
A novel ELANE gene mutation in a patient with severe congenital neutropenia and intermittent thrombocytopenia.
Sayour EJ et al.
Pediatric Blood & Cancer, 2015
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