An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype.
Department of Dermatology, Venerology and Allergology, University Medical Center Göttingen, Robert-Koch-Strasse 40, 37075, Göttingen, Germany.
J
J
Lehmann
S
S
Schubert
A
A
Schäfer
A
A
Apel
P
P
Laspe
S
S
Schiller
A
A
Ohlenbusch
A
A
Gratchev
S
S
Emmert
D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D004720:Endonucleases / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014983:Xeroderma Pigmentosum / Q000235:genetics*; D000099250:DNA Excision Repair Protein ERCC-5
D004268:DNA-Binding Proteins; D004720:Endonucleases; D009687:Nuclear Proteins; D014157:Transcription Factors; D000099250:DNA Excision Repair Protein ERCC-5