Hsu, Amy P <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural 
<br/><br/><label>ISSN: </label>1528-0020 
<br/><br/><label>Standard No.: </label>10.1182/blood-2012-08-452763  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Conserved Sequence--genetics<br/>Female<br/>GATA2 Transcription Factor--genetics<br/>Haploinsufficiency--genetics<br/>Humans<br/>Infant<br/>Introns--genetics<br/>K562 Cells<br/>Leukopenia--blood<br/>Male<br/>Middle Aged<br/>Molecular Sequence Data<br/>Monocytes--pathology<br/>Mutation--physiology<br/>Mycobacterium avium-intracellulare Infection--blood<br/>Nonsense Mediated mRNA Decay--genetics<br/>Syndrome<br/>Young Adult