Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)

Experimental Dermatology

Volumn 18, Issue 1, 2009, Pages 64-68

  Emmert, Steffen ^a   Ueda, Takahiro ^b   Zumsteg, Urs ^c   Weber, Peter ^c   Khan, Sikandar G ^b   Oh, Kyu Seon ^b   Boyle, Jennifer ^b   Laspe, Petra ^a   Zachmann, Karolin ^a   Boeckmann, Lars ^a   Kuschal, Christiane ^a   Bircher, Andreas ^d   Kraemer, Kenneth H ^b  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b NATIONAL CANCER INSTITUTE   (United States)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

Cancer prevention; DNA repair; Sun protection; Xeroderma pigmentosum; XPD

Indexed keywords

ALANINE; GLYCINE; MESSENGER RNA; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CELL SURVIVAL; COCKAYNE SYNDROME; CONJUNCTIVITIS; EXCISION REPAIR; FIBROBLAST; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LENTIGO; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PTERYGIUM; SUNLIGHT PROTECTION; TENDON REFLEX; TRICHOTHIODYSTROPHY; ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; DNA REPAIR; FIBROBLASTS; GENE DELETION; HUMANS; MALE; MUTATION; PHENOTYPE; SKIN; SKIN NEOPLASMS; SUNLIGHT; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 57649243698     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2008.00763.x     Document Type: Article

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