GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
Hsu, Amy P
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. [electronic resource] - Blood May 2013 - 3830-7, S1-7 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
1528-0020
10.1182/blood-2012-08-452763 doi
Adolescent
Adult
Aged
Base Sequence
Child
Child, Preschool
Conserved Sequence--genetics
Female
GATA2 Transcription Factor--genetics
Haploinsufficiency--genetics
Humans
Infant
Introns--genetics
K562 Cells
Leukopenia--blood
Male
Middle Aged
Molecular Sequence Data
Monocytes--pathology
Mutation--physiology
Mycobacterium avium-intracellulare Infection--blood
Nonsense Mediated mRNA Decay--genetics
Syndrome
Young Adult
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. [electronic resource] - Blood May 2013 - 3830-7, S1-7 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
1528-0020
10.1182/blood-2012-08-452763 doi
Adolescent
Adult
Aged
Base Sequence
Child
Child, Preschool
Conserved Sequence--genetics
Female
GATA2 Transcription Factor--genetics
Haploinsufficiency--genetics
Humans
Infant
Introns--genetics
K562 Cells
Leukopenia--blood
Male
Middle Aged
Molecular Sequence Data
Monocytes--pathology
Mutation--physiology
Mycobacterium avium-intracellulare Infection--blood
Nonsense Mediated mRNA Decay--genetics
Syndrome
Young Adult