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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D. Halazonetis, Omar Zgheib, Simone Sabbioneda
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Nature Portfolio 2024-01-01
Цуврал:	Scientific Reports
Онлайн хандалт:	https://doi.org/10.1038/s41598-023-51120-1
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!