Associated Papers
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.
Ricciardiello R et al.
Scientific Reports, 2024
The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.
Sarasin A
Cancers, 2023
Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η.
Lerner LK et al.
Scientific Reports, 2020
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
Opletalova K et al.
Human Mutation, 2014
Structure and mechanism of human DNA polymerase eta.
Biertümpfel C et al.
Nature, 2010
Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.
Feltes BC et al.
Mutation Research. Reviews in Mutation Research, 0
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