Review article
Molecular diagnosis of congenital neutropenia
Mgr. Veronika Medová
Congenital neutropenia is a group of primary immunodeficiency disorders characterized by a low neutrophil count, which may be syndromic with the presence of various extrahematological...
Keywords: ELANE, molecular genetics, neutropénia, next-generation sequencing, WES
newslab 2021, 01 : 32 - 36