An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype

British Journal of Dermatology

Volumn 171, Issue 4, 2014, Pages 903-905

  Lehmann, J ^a   Schubert, S ^a   Schafer A ^a   Apel, A ^a   Laspe, P ^a   Schiller, S ^a   Ohlenbusch, A ^a   Gratchev, A ^b   Emmert, S ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TRANSCRIPTION FACTOR IIH; DNA BINDING PROTEIN; DNA EXCISION REPAIR PROTEIN ERCC-5; ENDONUCLEASE; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR;

CANCER RISK; CELL SURVIVAL; CEREBELLUM ATROPHY; CHILD; CHROMOSOME; COCKAYNE SYNDROME; DNA REPAIR; EXCISION REPAIR; EXON; EXPRESSION VECTOR; FAILURE TO THRIVE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HELA CELL LINE; HUMAN; INTRON; LD50; LETTER; MENTAL DEFICIENCY; MICROCEPHALY; PHENOTYPE; PHOTOSENSITIVITY; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SKIN CANCER; SKIN FIBROBLAST; STABLE EXPRESSION; ULTRAVIOLET RADIATION; UNSCHEDULED DNA SYNTHESIS; WILD TYPE; XERODERMA PIGMENTOSUM; XPG GENE; CASE REPORT; FRAMESHIFT MUTATION; GENETICS;

CHILD, PRESCHOOL; DNA-BINDING PROTEINS; ENDONUCLEASES; FEMALE; FRAMESHIFT MUTATION; HUMANS; NUCLEAR PROTEINS; TRANSCRIPTION FACTORS; XERODERMA PIGMENTOSUM;

EID: 84936104385     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.13035     Document Type: Letter

References (10)

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