A Newly Identified Patient with Clinical Xeroderma Pigmentosum Phenotype has a Non-Sense Mutation in the DDB2 Gene and Incomplete Repair in (6-4) Photoproducts
- 1 August 1999
- journal article
- case report
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 113 (2) , 251-257
- https://doi.org/10.1046/j.1523-1747.1999.00652.x
Abstract
No abstract availableKeywords
Funding Information
- Kao Foundation for Arts and Sciences
- Naito Foundation
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 23 references indexed in Scilit:
- The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet-light irradiationPublished by Elsevier ,2003
- A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestationsPublished by Elsevier ,2002
- Three-Dimensional Visualization of Ultraviolet-Induced DNA Damage and Its Repair in Human Cell NucleiJournal of Investigative Dermatology, 1998
- Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group AMutation Research/DNA Repair, 1996
- Accuracy of Replication Past the T-C (6-4) AdductJournal of Molecular Biology, 1994
- Biochemical heterogeneity in xeroderma pigmentosum complementation group EMutation Research/DNA Repair, 1992
- UV damage-specific DNA-binding protein in xeroderma pigmentosum complementation group EBiochemical and Biophysical Research Communications, 1991
- Semi-conservative deoxyribonucleic acid synthesis in unirradiated and ultraviolet-irradiated xeroderma pigmentosum and normal human skin fibroblastsMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1977
- A DNA binding protein from human placenta specific for ultraviolet damaged DNABiochemistry, 1976
- Five complementation groups in xeroderma pigmentosumMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1975