Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.
Seo JI, Nishigori C, Ahn JJ, Ryu JY, Lee J, Lee MH, Kim SK, Jeong KH.
Seo JI, et al.
Medicina (Kaunas). 2023 Apr 3;59(4):699. doi: 10.3390/medicina59040699.
Medicina (Kaunas). 2023.
PMID: 37109656
Free PMC article.
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the XPC gene (rs121965088: c.1735C > T, p.Arg579Ter). While rs121965088 is associated w …
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, …