GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. [electronic resource]
Producer: 20130722Description: 3830-7, S1-7 p. digitalISSN:- 1528-0020
- 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
No physical items for this record
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
There are no comments on this title.
Log in to your account to post a comment.