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Updated: Jun 8, 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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两个家族腺多重症病例的比较,具有相同的APC基因型和不同的表型

Eva Spier1, Aashna Pandya1, Miranda Di Biase2

  • 1Albert Einstein College of Medicine, Bronx, NY, USA.

Cancer genetics
|November 8, 2024
PubMed
概括

家庭腺瘤多重症 (FAP) 表现出可变的表达性,即使具有相同的APC基因变异. 本案例研究显示了两名患有相同病原性APC变异但临床表现不同的患者,突出显示了个性化FAP管理的必要性.

关键词:
癌症倾向性 癌症倾向性结肠直肠癌是一种癌症.遗传学 遗传学 是一个基因型-表型 基因型-表型

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