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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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| Autori principali: | , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society of Hematology
2013
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| Soggetti: | |
| Accesso online: | 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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