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Updated: Sep 10, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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皮茨-杰格斯综合征核家族的遗传调查和转录组分析

Tahir N Khan1,2,3, Chunyu Liu4, Kai Lee Yap5,6

  • 1Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

Human mutation
|August 27, 2025
PubMed
概括

皮茨-杰格斯综合征 (PJS) 涉及由STK11基因变异引起的粘膜皮肤色素和息肉. 这项研究揭示了整个STK11基因删除和TP53AIP1变异影响P53和Wnt信号通路,为PJS提供了新的见解.

关键词:
DNA 修复病例报告疾病的严重程度p53 信号传输

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