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CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome
Mutations in CDCA7 and HELLS that respectively encode a CXXC-type zinc finger protein and an SNF2 family chromatin remodeler cause immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome types 3 and 4. Here, we demonstrate that the classical nonhomologous end joining (C-NHEJ)...
Gardado en:
| Publicado en: | J Clin Invest |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
American Society for Clinical Investigation
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6307953/ https://ncbi.nlm.nih.gov/pubmed/30307408 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI99751 |
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