Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

Human Molecular Genetics

Volumn 10, Issue 22, 2001, Pages 2539-2547

  Broughton, Bernard C ^a   Berneburg, Mark ^b   Fawcett, Heather ^a   Taylor, Elaine M ^a   Arlett, Colin F ^a   Nardo, Tiziana ^c   Stefanini, Miria ^c   Menefee, Emory ^d   Price, Vera H ^d   Queille, Sophie ^e   Sarasin, Alain ^e   Bohnert, Elisabeth ^f   Krutmann, Jean ^b   Davidson, Rosemarie ^g   Kraemer, Kenneth H ^h   Lehmann, Alan R ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c CNR   (Italy)

^d Trichos Research   (United States)

^e UPR 2169 CNRS   (France)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

^h NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR; DNA; HELICASE; NUCLEOTIDE; SULFUR;

ADULT; AMINO ACID ANALYSIS; ARTICLE; CANCER SUSCEPTIBILITY; CLINICAL FEATURE; COCKAYNE SYNDROME; DNA REPAIR; EXCISION REPAIR; FEMALE; GENE MUTATION; GENETIC TRANSCRIPTION; GENOTYPE; HAIR; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MENTAL DEVELOPMENT; PHENOTYPE; PHOTOSENSITIVITY; PHYSICAL DEVELOPMENT; POLARIZATION MICROSCOPY; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN CANCER; SKIN PIGMENTATION; SYSTEMIC DISEASE; TRICHOTHIODYSTROPHY; ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM;

GALLUS GALLUS; PANTHERA TIGRIS; POMACANTHUS MACULOSUS;

EID: 0035888619     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.22.2539     Document Type: Article

References (37)

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