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Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein
Bloom syndrome (BS) is an autosomal recessive disorder characterized by genomic instability and the early development of many types of cancer. Missense mutations have been identified in the BLM gene (encoding a RecQ helicase) in affected individuals, but the molecular mechanism and the structural ba...
| Autores principales: | , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2007
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2094094/ https://www.ncbi.nlm.nih.gov/pubmed/17878217 http://dx.doi.org/10.1093/nar/gkm536 |