Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): Xeroderma pigmentosum without and with Cockayne syndrome

Human Mutation

Volumn 27, Issue 11, 2006, Pages 1092-1103

  Oh, Kyu Seon ^a   Khan, Sikandar G ^a   Jaspers, N G J ^b   Raams, Anja ^b   Ueda, Takahiro ^a   Lehmann, Alan ^c   Friedmann, Peter S ^d   Emmert, Steffen ^e   Gratchev, Alexi ^f   Lachlan, Katherine ^g   Lucassan, Anneke ^g   Baker, Carl C ^a   Kraemer, Kenneth H ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c UNIVERSITY OF SUSSEX   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g Wessex Clinical Genetics Service   (United Kingdom)

Author keywords

DNA repair; ERCC3; Neurodegeneration; Skin cancer; TFIIH; Transcription; XPB

Indexed keywords

HELICASE; TRANSCRIPTION FACTOR IIH;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL VIABILITY; CHILD; CLINICAL ARTICLE; COCKAYNE SYNDROME; CONTROLLED STUDY; DNA REPAIR; ERCC3 GENE; EXCISION REPAIR; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; XERODERMA PIGMENTOSUM; XPB GENE;

ABNORMALITIES, MULTIPLE; ADULT; ALTERNATIVE SPLICING; CARCINOMA, BASAL CELL; CELL SURVIVAL; COCKAYNE SYNDROME; DEMYELINATING DISEASES; DNA HELICASES; DNA REPAIR; DNA-BINDING PROTEINS; EYE NEOPLASMS; FEMALE; GENE EXPRESSION; GENOME, HUMAN; HETEROZYGOTE; HUMANS; MALE; MELANOMA; MIDDLE AGED; MUTATION; NUCLEAR FAMILY; PHENOTYPE; PHOTOSENSITIVITY DISORDERS; POLYMORPHISM, GENETIC; RNA; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM;

XERODERMA PIGMENTOSUM;

EID: 33750922149     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20392     Document Type: Article

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