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Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM
BACKGROUND: Bloom syndrome is an autosomal recessive disorder characterized by extraordinary cancer incidence early in life and an average life expectancy of ~27 years. Premature stop codons in BLM, which encodes a DNA helicase that functions in DNA double‐strand‐break repair, make up the vast major...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley and Sons Inc.
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707026/ https://www.ncbi.nlm.nih.gov/pubmed/26788541 http://dx.doi.org/10.1002/mgg3.188 |