title: A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter.
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Matsushita
authors.forename: Satomi
authors.initials: S
authors.lastname: Asai
authors.forename: Shuhei
authors.initials: S
authors.lastname: Komiya
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Inoue
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Yabe
authors.forename: Hayato
authors.initials: H
authors.lastname: Miyachi
mesh_terms: D000293:Adolescent; D000328:Adult; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D005190:Family; D005260:Female; D030342:Genetic Diseases, Inborn / Q000201:enzymology / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009503:Neutropenia / Q000151:congenital / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D019272:Leukocyte Elastase