TY  - GEN
AU  - Hsu,Amy P
AU  - Johnson,Kirby D
AU  - Falcone,E Liana
AU  - Sanalkumar,Rajendran
AU  - Sanchez,Lauren
AU  - Hickstein,Dennis D
AU  - Cuellar-Rodriguez,Jennifer
AU  - Lemieux,Jacob E
AU  - Zerbe,Christa S
AU  - Bresnick,Emery H
AU  - Holland,Steven M
TI  - GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
SN  - 1528-0020
PY  - 2013///0722
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Conserved Sequence
KW  - genetics
KW  - Female
KW  - GATA2 Transcription Factor
KW  - Haploinsufficiency
KW  - Humans
KW  - Infant
KW  - Introns
KW  - K562 Cells
KW  - Leukopenia
KW  - blood
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Monocytes
KW  - pathology
KW  - Mutation
KW  - physiology
KW  - Mycobacterium avium-intracellulare Infection
KW  - Nonsense Mediated mRNA Decay
KW  - Syndrome
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
UR  - https://doi.org/10.1182/blood-2012-08-452763
ER  -