title: Molecular screening of the neutrophil elastase gene in congenital neutropenia.
abstract: Congenital neutropenia is a rare hematopoietic disease, which occurs sporadically or as an auto-somal dominant inherited disorder. Pathogenesis of congenital neutropenia can now be attributed to mutations of the ELA2 gene encoding neutrophil elastase. A child with severe congenital neutropenia with a heterozygous mutation G1887A in exon 2 of ELA2 gene is reported.
authors.affiliation: Department of Hematology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: M
authors.initials: M
authors.lastname: Thomas
authors.forename: G
authors.initials: G
authors.lastname: Jayandharan
authors.forename: M
authors.initials: M
authors.lastname: Chandy
mesh_terms: D004252:DNA Mutational Analysis; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D006579:Heterozygote; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics*; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics*
chemical_list: D019272:Leukocyte Elastase