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Spectrum and Consequences of SMC1A Mutations: The Unexpected Involvement of a Core Component of Cohesin in Human Disease
SMC1A encodes a structural component of the cohesin complex, which isnecessary for sister chromatid cohesion. In addition to its canonical role, cohesin has been shown to be involved in gene expression regulation and maintenance of genome stability. Recently, it has been demonstrated that mutations...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2797832/ https://ncbi.nlm.nih.gov/pubmed/19842212 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21129 |
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