Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

Broughton, B C; Berneburg, M; Fawcett, H; Taylor, E M; Arlett, C F; Nardo, T; Stefanini, M; Menefee, E; Price, V H; Queille, S; Sarasin, A; Bohnert, E; Krutmann, J; Davidson, R; Kraemer, K H; Lehmann, A R

Broughton, B C; Berneburg, M; Fawcett, H; Taylor, E M; Arlett, C F; Nardo, T; Stefanini, M; Menefee, E; Price, V H; Queille, S; Sarasin, A; Bohnert, E; Krutmann, J; Davidson, R; Kraemer, K H; Lehmann, A R.

Affiliation

Broughton BC; Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RR, UK.

Hum Mol Genet ; 10(22): 2539-47, 2001 Oct 15.

Article in En | MEDLINE | ID: mdl-11709541

Subject(s)

DNA Helicases; DNA-Binding Proteins; Hair Diseases/genetics; Proteins/genetics; Transcription Factors; Xeroderma Pigmentosum/genetics; Adult; Amino Acid Sequence; Apoptosis/radiation effects; Base Sequence; Cell Survival/radiation effects; Cells, Cultured; Child, Preschool; DNA Mutational Analysis; DNA, Complementary/chemistry; DNA, Complementary/genetics; Dose-Response Relationship, Radiation; Female; Hair Diseases/pathology; Humans; Mutation; Photosensitivity Disorders/genetics; Photosensitivity Disorders/pathology; Sequence Homology, Amino Acid; Sequence Homology, Nucleic Acid; Ultraviolet Rays; Xeroderma Pigmentosum/pathology; Xeroderma Pigmentosum Group D Protein

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Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Xeroderma Pigmentosum / Proteins / DNA Helicases / DNA-Binding Proteins / Hair Diseases Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2001 Document type: Article Affiliation country: United kingdom

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