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Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase
Bloom syndrome (BS) is an autosomal recessive disorder caused by mutations in the RecQ-like DNA helicase BLM, which functions in the maintenance of genome stability. Using a humanized model of Saccharomyces cerevisiae that expresses a chimera of the N terminus of yeast Sgs1 and the C terminus of hum...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2012
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3511070/ https://ncbi.nlm.nih.gov/pubmed/23129629 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1210304109 |
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