A nearly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts

Journal of Investigative Dermatology

Volumn 113, Issue 2, 1999, Pages 251-257

  Itoh, Toshiki ^a   Mori, Toshio ^b   Ohkubo, Hiroaki ^a   Yamaizumi, Masaru ^a  

^a KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^b NARA MEDICAL UNIVERSITY   (Japan)

Author keywords

Damage specific DNA binding protein; Nucleotide excision repair; Postreplication repair

Indexed keywords

DNA; CAFFEINE; DDB2 PROTEIN, HUMAN; DNA BINDING PROTEIN; PYRIMIDINE DIMER;

AGED; ARTICLE; CASE REPORT; DNA REPAIR; DNA REPLICATION; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; XERODERMA PIGMENTOSUM; FRAMESHIFT MUTATION; GENETICS; KINETICS; METABOLISM; MIDDLE AGED; PHOTOSENSITIVITY DISORDER; STOP CODON; ULTRAVIOLET RADIATION;

CAFFEINE; CODON, NONSENSE; DNA REPAIR; DNA REPLICATION; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; HUMANS; KINETICS; MIDDLE AGED; PHENOTYPE; PHOTOSENSITIVITY DISORDERS; PYRIMIDINE DIMERS; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM;

EID: 0033176104     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00652.x     Document Type: Article

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