GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

Previous reports of GATA2 mutations have focused on the coding region of the gene or full gene deletions. We recently identified 2 patients with novel insertion/deletion mutations predicted to result in mRNA nonsense-mediated decay, suggesting haploinsufficiency as the mechanism of GATA2 deficient d...

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Detalhes bibliográficos
Main Authors: Hsu, Amy P., Johnson, Kirby D., Falcone, E. Liana, Sanalkumar, Rajendran, Sanchez, Lauren, Hickstein, Dennis D., Cuellar-Rodriguez, Jennifer, Lemieux, Jacob E., Zerbe, Christa S., Bresnick, Emery H., Holland, Steven M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2013
Assuntos:
Hematopoiesis and Stem Cells
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3650705/
https://ncbi.nlm.nih.gov/pubmed/23502222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-08-452763
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