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Updated: Sep 14, 2025

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis
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Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis

Published on: June 19, 2018

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对癌症体质和生殖系聚合酶校对缺陷的比较分析:分子和临床影响

Julen Viana-Errasti1, Raúl Marín2, Sandra García-Mulero3

  • 1Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain; Programa de Doctorat en Biomedicina, Universitat de Barcelona (UB), Barcelona, Spain.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
|July 18, 2025
PubMed
概括

在POLE和POLD1聚合酶中的致病变体损害了DNA校对,导致超突变瘤. 生殖线与体质突变的差异以及POLE和POLD1之间的差异影响癌症风险,瘤类型和治疗策略.

关键词:
波兰 波兰1波兰 波兰 波兰遗传性癌症是一种遗传性癌症.突变的签名突变的签名与聚合酶校对相关的多重构成.瘤突变负担的突变负担

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Proofreading01:31

Proofreading

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Mismatch Repair01:20

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The first step of...
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