Mutations in the gene encoding neutrophil elastase (<i>ELA2</i>) are not sufficient to cause the phenotype of congenital neutropenia

Abstract excerpt

Mutations in the ELA2 gene encoding human neutrophil elastase have been reported recently to be involved in the aetiology of both, cyclic (CyN) and congenital neutropenia (CN). We analysed the correlation between the occurrence of ELA2 mutations and the neutropenic phenotype in a family with two children affected with CN. The two children harboured the same heterozygous mutation in the ELA2 gene that was...

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