Newly identified CHO ERCC3/XPB mutations and phenotype characterization.

  title={Newly identified CHO ERCC3/XPB mutations and phenotype characterization.},
  author={Ivana Rybansk{\'a} and J{\'a}n Gursk{\'y} and Miriam Faskov{\'a} and Edmund P. Salazar and Erika Kiml{\'i}ckov{\'a}-Polakovicov{\'a} and Karol Kleibl and Larry H. Thompson and Miroslav Pir{\vs}el},
  volume={25 2},
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 cross-complementing 3/xeroderma pigmentosum B (ERCC3/XPB) DNA helicase, a subunit of the… CONTINUE READING
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