A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter.
Matsushita
Hiromichi
H
Asai
Satomi
S
Komiya
Shuhei
S
Inoue
Hiroyasu
H
Yabe
Hiromasa
H
Miyachi
Hayato
H
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*
D019272:Leukocyte Elastase