Associated Papers
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Congenital Neutropenia with ELANE Gene Mutation Complicated with MPO-ANCA Positivity.
Zhang Y et al.
Indian Journal of Pediatrics, 2024
Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.
Xiao Y et al.
Frontiers in Immunology, 2024
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Makaryan V et al.
Current Opinion in Hematology, 2015
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.
Carlsson G et al.
British Journal of Haematology, 2012
Hematopoietic stem cell transplantation in severe congenital neutropenia.
Carlsson G et al.
Pediatric Blood & Cancer, 2011
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J et al.
Human Mutation, 2006
Select a paper to view details