Molecular genetic analysis of 16 XP-C patients from Germany: Environmental factors predominately contribute to phenotype variations

Experimental Dermatology

Volumn 22, Issue 1, 2013, Pages 24-29

  Schäfer, Annika ^a   Hofmann, Lars ^a   Gratchev, Alexei ^b   Laspe, Petra ^a   Schubert, Steffen ^a   Schürer, Anke ^a   Ohlenbusch, Andreas ^a   Tzvetkov, Mladen ^a   Hallermann, Christian ^c   Reichrath, Jörg ^d   Schön, Michael P ^a   Emmert, Steffen ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c Fachklinik Hornheide ^*  (Germany)

^d SAARLAND UNIVERSITY   (Germany)

Author keywords

Nucleotide excision repair; Skin cancer; Ultraviolet radiation; Xeroderma pigmentosum; XPC

Indexed keywords

XERODERMA PIGMENTOSUM GROUP C PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CELL SURVIVAL; CHILD; CLINICAL ARTICLE; ENVIRONMENTAL FACTOR; EXON; FEMALE; FIBROBLAST; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GERMANY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PROTEIN EXPRESSION; SCHOOL CHILD; SKIN CANCER; XERODERMA PIGMENTOSUM;

ADOLESCENT; ADULT; CELL SURVIVAL; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA-BINDING PROTEINS; ENVIRONMENT; FEMALE; FIBROBLASTS; FRAMESHIFT MUTATION; GERMANY; HUMANS; INDEL MUTATION; MALE; NERVOUS SYSTEM DISEASES; PHENOTYPE; RNA, MESSENGER; SKIN NEOPLASMS; SUNBURN; SUNLIGHT; XERODERMA PIGMENTOSUM; YOUNG ADULT;

EID: 84871718222     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/exd.12052     Document Type: Article

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