Associated Papers
De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.
Chen X et al.
Journal of Clinical Immunology, 2025
Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.
Sabo P et al.
Molecular Therapy. Methods & Clinical Development, 2022
35795780 (PubMed )
Supplement: mmc1.pdf
Neutrophil Elastase Defects in Congenital Neutropenia.
Rydzynska Z et al.
Frontiers in Immunology, 2021
Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.
Park CH et al.
Journal of Pediatric Hematology/oncology, 2020
Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.
Arun AK et al.
Journal of Clinical Pathology, 2018
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Makaryan V et al.
Current Opinion in Hematology, 2015
A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
Lee ST et al.
Annals of Hematology, 2009
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J et al.
Human Mutation, 2006
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