Article
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
Human molecular genetics - 1 May 2000
Colella S, Nardo T, Botta E, Lehmann A R, Stefanini M
Abstract excerpt
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two hereditary disorders in which photosensitivity is associated with distinct clinical and cellular phenotypes and results from genetically different defects. We have identified the primary molecular alteration in two patients in whom clinical manifestations strongly reminiscent of a severe form of XP were unexpectedly associated with the CS cellular...
Topics
- Cells, Cultured
- Cockayne Syndrome
- Codon, Terminator
- DNA Helicases
- DNA Repair Enzymes
- Genetic Variation
- Humans
- In Situ Hybridization, Fluorescence
- Mutation, Missense
- Nuclear Family
- Point Mutation
- Poly-ADP-Ribose Binding Proteins
- Xeroderma Pigmentosum