Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients

J Dermatol. 2023 Mar;50(3):407-408. doi: 10.1111/1346-8138.16623. Epub 2022 Nov 7.

Authors

Hirotaka Kobayashi¹, Franklin Mayca Pozo¹, Wataru Sakai^{1

2}, Kenji Sato³, Kaoru Sugasawa^{1

2}

Affiliations

¹ Biosignal Research Center, Kobe University, Kobe, Japan.
² Department of Biology, Graduate School of Science, Kobe University, Kobe, Japan.
³ Department of Dermatology, Hannan Chuo Hospital, Osaka, Japan.

PMID: 36342058
DOI: 10.1111/1346-8138.16623

No abstract available

Keywords: ERCC2; XPC; mutation; nucleotide excision repair; xeroderma pigmentosum.

Publication types

Editorial

MeSH terms

DNA Repair
DNA-Binding Proteins / genetics
East Asian People
Humans
Mutation
Ultraviolet Rays
Xeroderma Pigmentosum* / genetics

Substances

DNA-Binding Proteins

Supplementary concepts

Xeroderma Pigmentosum, Complementation Group C