Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring
Open Access
- 1 September 2002
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 118 (3) , 923
- https://doi.org/10.1046/j.0007-1048.2002.03648.x
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropeniaBlood, 2002
- Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the diseaseBlood, 2001
- Mutations in the gene encoding neutrophil elastase (ELA2 ) are not sufficient to cause the phenotype of congenital neutropeniaBritish Journal of Haematology, 2001
- Somatic Mosaicism in Hemophilia A: A Fairly Common EventAmerican Journal of Human Genetics, 2001
- Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropeniaBlood, 2000