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Article

Newly identified CHO ERCC3/XPB mutations and phenotype characterization.

Mutagenesis - 1 Mar 2010

Rybanská Ivana, Gursky Ján, Fasková Miriam, Salazar Edmund P, Kimlícková-Polakovicová Erika, Kleibl Karol, Thompson Larry H, Pirsel Miroslav

Abstract excerpt

Nucleotide excision repair (NER) is a complex multistage process involving many interacting gene products to repair a wide range of DNA lesions. Genetic defects in NER cause human hereditary diseases including xeroderma pigmentosum (XP), Cockayne syndrome (CS), trichothiodystrophy and a combined XP/CS overlapping symptom. One key gene product associated with all these disorders is the excision repair...

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Source

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Identifiers

PMID: 19942596
DOI: 10.1093/mutage/gep059
PMCID: PMC2825344

Genes

ERCC3
CS

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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