STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients.

Yu-Liang Jiang,Zi-Ye Zhao,Bai-Rong Li,Hao Wang,En-Da Yu,Shou-Bin Ning

Cancer Genetics（2019）

引用 13|浏览23

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摘要

•We validated that the combined usage of direct sequencing and MLPA can achieve a high detection rate in Chinese Han PJS patients.•We found significantly more splice mutations in Chinese Han PJS patients.•We suggest that wide usage of enteroscopy would be helpful in PJS surveillance.

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关键词

Peutz-Jeghers syndrome,STK11,Cancer,Surveillance,Multiple ligation-dependent probe amplification,MLPA

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