Associated Papers
[Congenital neutropenia: a clinical case report].
Jiménez-Covarrubias S et al.
Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 2025
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: alternative donor and disease-specific conditioning regimen with unmanipulated grafts.
Lu Y et al.
Hematology (amsterdam, Netherlands), 2021
Two paternal mosaicism of mutation in ELANE causing severe congenital neutropenia exhibit normal neutrophil morphology and ROS production.
Liu Q et al.
Clinical Immunology (orlando, Fla.), 2019
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
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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