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Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression
A homozygous truncating frameshift mutation in CEP57 (CEP57(T/T)) has been identified in a subset of mosaic-variegated aneuploidy (MVA) patients; however, the physiological roles of the centrosome-associated protein CEP57 that contribute to disease are unknown. To investigate these, we have generate...
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| Pubblicato in: | J Clin Invest |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Clinical Investigation
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6063474/ https://ncbi.nlm.nih.gov/pubmed/30035751 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI120316 |
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