Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C

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 with a poor prognosis...

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Detalles Bibliográficos
Autores principales: Seo, Ji-In, Nishigori, Chikako, Ahn, Jung Jin, Ryu, Jae Young, Lee, Junglok, Lee, Mu-Hyoung, Kim, Su Kang, Jeong, Ki-Heon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10144254/
https://www.ncbi.nlm.nih.gov/pubmed/37109656
http://dx.doi.org/10.3390/medicina59040699

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