Associated Papers
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.
Ricciardiello R et al.
Scientific Reports, 2024
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Structure and mechanism of human DNA polymerase eta.
Biertümpfel C et al.
Nature, 2010
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.
Masaki T et al.
Journal of Dermatological Science, 2008
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.
Tanioka M et al.
The Journal of Investigative Dermatology, 2007
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