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Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair
Hereditary mutations in polynucleotide kinase-phosphatase (PNKP) result in a spectrum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with early onset seizures (MCSZ) to neurodegeneration in ataxia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (C...
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| 發表在: | Nucleic Acids Res |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7337934/ https://ncbi.nlm.nih.gov/pubmed/32504494 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkaa489 |
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