Concepedia

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

Amanda Rivera-Begeman, Lisa D. McDaniel, Roger A. Schultz, Errol C. Friedberg

DNA repair · 2006 · 23 citations · 32 references

DOI

Concepts

References

32

DNA repair and mutagenesis

D. Bootsma, Jan H.J. Hoeijmakers · Trends in Genetics · 1996 · 2.3K citations

, , +12

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

, , +11

Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases

Kenneth H. Kraemer · Archives of Dermatology · 1987 · 1.1K citations

, , +13

Xeroderma Pigmentosum Group C Protein Complex Is the Initiator of Global Genome Nucleotide Excision Repair

Kaoru Sugasawa, Jessica M.Y. Ng, Chikahide Masutani et al. · Molecular Cell · 1998 · 888 citations · Full text

, , +12

Xeroderma Pigmentosum

Kenneth H. Kraemer · Archives of Dermatology · 1987 · 803 citations

, , +6