Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features
- 31 July 2005
- journal article
- case report
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 125 (1), 86-92
- https://doi.org/10.1111/j.0022-202x.2005.23745.x
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8‐hydroxyguanine and 8‐hydroxyadenine resulting from oxidative stressThe FASEB Journal, 2003
- Reduced level of the repair/transcription factor TFIIH in trichothiodystrophyHuman Molecular Genetics, 2002
- Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G PatientsJournal of Investigative Dermatology, 2002
- TFIIH: from transcription to clinicFEBS Letters, 2001
- RETRACTED: Transcription-Coupled Repair of 8-oxoGuanine: Requirement for XPG, TFIIH, and CSB and Implications for Cockayne SyndromeCell, 2000
- Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.Journal of Medical Genetics, 1993
- A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-CMutation Research/DNA Repair, 1992
- A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cellsMutation Research, 1980
- Cockayne syndrome: Unusual neuropathological findings and review of the literatureAnnals of Neurology, 1979
- A Syndrome Resembling Progeria: A Review of Two CasesArchives of Disease in Childhood, 1950