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pro vyhledávání: '"Jung Jin Ahn"'
Autor:
Ji-In Seo, Chikako Nishigori, Jung Jin Ahn, Jae Young Ryu, Junglok Lee, Mu-Hyoung Lee, Su Kang Kim, Ki-Heon Jeong
Publikováno v:
Medicina, Vol 59, Iss 4, p 699 (2023)
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
Externí odkaz:
https://doaj.org/article/be7ceb9190ff4f1d87b36dadea47d935
