Rare hereditary diseases with defects in DNA-repair

European Journal of Dermatology

Volumn 22, Issue 4, 2012, Pages 443-455

  Knoch, Jennifer ^a   Kamenisch, York ^a   Kubisch, Christian ^b   Berneburg, Mark ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF ULM   (Germany)

Author keywords

Ataxia telangiectasia; Bloom syndrome; Cancer; Cockayne syndrome; DNA repair; Fanconi anemia; Nijmegen breakage syndrome; Premature aging; Trichothiodystrophy; Werner syndrome; Xeroderma pigmentosum

Indexed keywords

ATM PROTEIN; BLOOM SYNDROME HELICASE; BRCA2 PROTEIN; FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP C PROTEIN; FANCONI ANEMIA GROUP D2 PROTEIN; FANCONI ANEMIA GROUP E PROTEIN; FANCONI ANEMIA GROUP F PROTEIN; FANCONI ANEMIA GROUP G PROTEIN; NIBRIN; WERNER SYNDROME PROTEIN; XERODERMA PIGMENTOSUM GROUP A PROTEIN; XERODERMA PIGMENTOSUM GROUP C PROTEIN; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; BLM GENE; BLOOM SYNDROME; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME BREAKAGE; CLINICAL FEATURE; COCKAYNE SYNDROME; CROSS REACTION; CSA GENE; CSB GENE; DISEASE SEVERITY; DNA CROSS LINKING; DNA DAMAGE; DNA REPAIR; DOUBLE STRANDED DNA BREAK; FANC A GENE; FANC B GENE; FANC C GENE; FANC D1 GENE; FANC D2 GENE; FANC E GENE; FANC F GENE; FANC G GENE; FANC I GENE; FANC J GENE; FANC L GENE; FANC M GENE; FANC N GENE; FANCONI ANEMIA; GENE; GENE FUNCTION; GENE MUTATION; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; NBS1 GENE; NIJMEGEN BREAKAGE SYNDROME; PREMATURE AGING; PROTEIN PROTEIN INTERACTION; RARE DISEASE; SKIN MANIFESTATION; TRICHOTHIODYSTROPHY; TTDN1 GENE; WERNER SYNDROME; WOUND HEALING IMPAIRMENT; WRN GENE; XERODERMA PIGMENTOSUM; XEROSIS; XPA GENE; XPB GENE; XPC GENE; XPD GENE; XPE GENE; XPF GENE; XPG GENE; XPV GENE;

DNA REPAIR-DEFICIENCY DISORDERS; HUMANS; PHENOTYPE;

EID: 84865387901     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2012.1654     Document Type: Article

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