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Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnor...
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| Publicado no: | J Clin Invest |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5531404/ https://ncbi.nlm.nih.gov/pubmed/28691929 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI92069 |
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