Associated Papers
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
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
Skokowa J et al.
Blood, 2014
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
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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