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Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.
Two missense mutations in different alleles of the DNA ligase I gene have been described in a patient (46BR) with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. One of the mutant alleles produces an inactive protein, while the other encodes an enzyme with some residual acti...
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| Publicat a: | Mol Cell Biol |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Taylor & Francis
1994
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC358380/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8264597/ https://ncbi.nlm.nih.govhttps://doi.org/10.1128/mcb.14.1.310 |
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