Home > A. Molecular pathology > ELA2
ELA2
Tuesday 13 April 2004
Pathoogy
Mutations in ELA2, the gene encoding neutrophil elastase (NE), cause the human diseases cyclic neutropenia (CN) and severe congenital neutropenia (SCN).
References
Horwitz M, Benson KF, Duan Z, Li FQ, Person RE. Hereditary neutropenia: dogs explain human neutrophil elastase mutations. Trends Mol Med. 2004 Apr;10(4):163-70. PMID: 15059607