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Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The associated phenotype is generally assumed to be the consequence of aberrant transcriptional regulation. Recently, we identified a missense mutation in B...
Shranjeno v:
| izdano v: | Nat Commun |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group UK
2021
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8149872/ https://ncbi.nlm.nih.gov/pubmed/34035299 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-23500-6 |
| Oznake: |
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