A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: A case report and review of the genetic variants reported in XPC

Autor: Rivera-Begeman, Amanda, McDaniel, Lisa D., Schultz, Roger A., Friedberg, Errol C.
Zdroj: In DNA Repair 2007 6(1):100-114
Databáze: ScienceDirect