Severe congenital neutropenia patients with point mutations in the granulocyte colony-stimulating factor (G-CSF) receptor mRNA express a normal G-CSF receptor protein.
Kasper
B
B
Herbst
A
A
Pilz
C
C
Germeshausen
M
M
Tidow
N
N
Hadam
M R
MR
Welte
K
K
D000293:Adolescent; D000328:Adult; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009000:Monocytes / Q000378:metabolism; D009503:Neutropenia / Q000151:congenital / Q000235:genetics* / Q000378:metabolism; D009504:Neutrophils / Q000378:metabolism; D017354:Point Mutation; D011289:Preleukemia / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis* / Q000235:genetics; D016188:Receptors, Granulocyte Colony-Stimulating Factor / Q000096:biosynthesis / Q000235:genetics*
D003062:Codon; D012333:RNA, Messenger; D016188:Receptors, Granulocyte Colony-Stimulating Factor