Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review
林奇综合征由 MSH6 基因 SINE-VNTR-Alu-F 逆转录转座子插入引起,经 20 年检测证实:病例报告及文献综述
期刊:Hered Cancer Clin Pract
影响因子:2.000
doi:10.1186/s13053-025-00324-9.
Wenche Sjursen ,Eva Kathrine Svaasand ,Bodil Gilde ,Anuradha Ravi ,Katinka Madtzog Korseth ,Ashish Kumar Singh ,Jostein Johansen ,Olaug Kristin Rødningen ,Sofie Geck Sevatdal ,Siv Anita Hegre ,Maren Fridtjofsen Olsen ,Kristine Misund