Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients

Journal of Experimental Medicine

Volumn 206, Issue 13, 2009, Pages 3031-3046

  Ueda, Takahiro ^a,b,d   Compe, Emmanuel ^a,c   Catez, Philippe ^a   Kraemer, Kenneth H ^b   Egly, Jean Marc ^a,c  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b NATIONAL CANCER INSTITUTE   (United States)

^c IRCAD   (France)

^d PHARMACEUTICALS AND MEDICAL DEVICES AGENCY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 7; HELICASE; RNA POLYMERASE II; TRANSCRIPTION FACTOR IIH; XERODERMA PIGMENTOSUM GROUP D PROTEIN; ERCC2 PROTEIN, HUMAN; KLF9 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME INHIBITION; ENZYME PHOSPHORYLATION; EXCISION REPAIR; FEMALE; GENE FUNCTION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PHENOTYPIC VARIATION; PHOTOSENSITIVITY; PRIORITY JOURNAL; PROTEIN FUNCTION; SKIN CANCER; TRANSACTIVATION; TRANSCRIPTION REGULATION; XERODERMA PIGMENTOSUM; ANIMAL; ARMYWORM; CELL CULTURE; GENETIC TRANSCRIPTION; GENETICS; PHENOTYPE; POINT MUTATION;

ADULT; ALLELES; ANIMALS; CELLS, CULTURED; FEMALE; HETEROZYGOTE; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; PHENOTYPE; POINT MUTATION; SPODOPTERA; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION, GENETIC; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 73949125692     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20091892     Document Type: Article

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