Concepedia

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation

Mariem Ben Rekaya, Olfa Messaoud, Amel Mebazâa, OLFA RIAHI, Héla Azaiez, RIM KEFI, Samir Boubaker, Ahlem Amouri, Amel Ben Osman-Dhahri, Sonia Abdelhak,

Journal of Genetics · 2011 · 17 citations · 15 references

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15

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η

Chikahide Masutani, Rika Kusumoto, Ayumi Yamada et al. · Nature · 1999 · 1.3K citations

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<i>hRAD30</i> Mutations in the Variant Form of Xeroderma Pigmentosum

Robert E. Johnson, Christine M. Kondratick, Satya Prakash et al. · Science · 1999 · 730 citations

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Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation.

Amy Lehman, Susan Kirk‐Bell, C. F. Arlett et al. · Proceedings of the National Academy of Sciences · 1975 · 613 citations · Full text

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What a difference a decade makes: Insights into translesion DNA synthesis

Wei Yang, Roger Woodgate · Proceedings of the National Academy of Sciences · 2007 · 376 citations · Full text

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Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

Wim J. Kleijer, Vincent Laugel, Mark Berneburg et al. · DNA repair · 2008 · 271 citations

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