Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant
Abstract DNA polymerase eta (Polη) is the only translesion synthesis polymerase capable of error-free bypass of UV-induced cyclobutane pyrimidine dimers. A deficiency in Polη function is associated with the human disease Xeroderma pigmentosum variant (XPV). We hereby report the case of a 60-year-old...
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| Hauptverfasser: | , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Portfolio
2024-01-01
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| Schriftenreihe: | Scientific Reports |
| Online-Zugang: | https://doi.org/10.1038/s41598-023-51120-1 |
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