Associated Papers
Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.
Kwon YD et al.
Annals of Hematology, 2025
Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.
Xiao Y et al.
Frontiers in Immunology, 2024
Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.
Jeong D et al.
Scientific Reports, 2022
Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia.
Lee WI et al.
Immunobiology, 2013
Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010.
Lee WI et al.
Immunobiology, 2011
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
Ishikawa N et al.
Journal of Medical Genetics, 2008
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