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Is the JAK2(V617F) mutation detectable in healthy volunteers?

作者信息

Martinaud Christophe, Brisou Patrick, Mozziconacci Marie-Joelle

出版信息

Am J Hematol. 2010 Apr;85(4):287-8. doi: 10.1002/ajh.21627.

DOI:10.1002/ajh.21627
PMID:20162546
Abstract
摘要

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Is the JAK2(V617F) mutation detectable in healthy volunteers?健康志愿者中能否检测到JAK2(V617F)突变?
Am J Hematol. 2010 Apr;85(4):287-8. doi: 10.1002/ajh.21627.
2
Analysis of JAK2(V617F) mutation in Chinese patients with myeloproliferative disorders.中国骨髓增殖性疾病患者JAK2(V617F)突变分析。
Am J Hematol. 2007 Jun;82(6):458-9. doi: 10.1002/ajh.20872.
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A simple, rapid, and sensitive method for the detection of the JAK2 V617F mutation.一种用于检测JAK2 V617F突变的简单、快速且灵敏的方法。
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Clinical performance of JAK2 V617F mutation detection assays in a molecular diagnostics laboratory: evaluation of screening and quantitation methods.分子诊断实验室中JAK2 V617F突变检测方法的临床性能:筛查和定量方法的评估
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JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: contribution, diagnosis and therapeutic prospects.摩洛哥骨髓增殖性疾病患者的JAK2-V617F突变:作用、诊断及治疗前景
Pathol Biol (Paris). 2011 Aug;59(4):e89-92. doi: 10.1016/j.patbio.2009.06.005. Epub 2009 Nov 24.
6
JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders.JAK2(V617F)作为一种获得性体细胞突变以及与家族性骨髓增殖性疾病疾病进展相关的继发性遗传事件。
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[The investigation of JAK2 V617F point mutation in myeloproliferative disorders by allele-specific polymerase chain reaction in combination with sequence analysis].[采用等位基因特异性聚合酶链反应结合序列分析对骨髓增殖性疾病中JAK2 V617F点突变的研究]
Zhonghua Yi Xue Za Zhi. 2007 Aug 14;87(30):2109-12.
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[Novel method in diagnosis of chronic myeloproliferative disorders--detection of JAK2 mutation].慢性骨髓增殖性疾病诊断的新方法——JAK2 突变检测
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Detection of the JAK2 V617F missense mutation by high resolution melting analysis and its validation.通过高分辨率熔解分析检测JAK2 V617F错义突变及其验证
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Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders.骨髓增殖性疾病患者中JAK2-V617F突变与临床及实验室检查结果的相关性
Leuk Res. 2007 Aug;31(8):1053-62. doi: 10.1016/j.leukres.2006.09.005. Epub 2006 Oct 12.

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A Comparison of Bone Marrow Morphology and Peripheral Blood Findings in Low and High Level V617F Allele Burden.低水平和高水平V617F等位基因负荷下骨髓形态学与外周血检查结果的比较
Diagnostics (Basel). 2023 Jun 16;13(12):2086. doi: 10.3390/diagnostics13122086.
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Frequency of Zygosity in Jak-2 Positive Patients with Polycythemia Vera-Pakistan's Perspective.
真性红细胞增多症中 JAK2 阳性患者的同卵双生子频率-巴基斯坦视角。
Asian Pac J Cancer Prev. 2021 Feb 1;22(2):559-564. doi: 10.31557/APJCP.2021.22.2.559.
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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.非小细胞肺癌的癌症基因谱分析显示 JAK2 和 JAK3 存在激活突变,具有治疗意义。
Genome Med. 2017 Oct 30;9(1):89. doi: 10.1186/s13073-017-0478-1.
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Ethical considerations in genomic testing for hematologic disorders.血液系统疾病基因检测中的伦理考量
Blood. 2017 Jul 27;130(4):460-465. doi: 10.1182/blood-2017-01-734558. Epub 2017 Jun 9.
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Assessment of the interlaboratory variability and robustness of JAK2V617F mutation assays: A study involving a consortium of 19 Italian laboratories.JAK2V617F突变检测的实验室间变异性和稳健性评估:一项涉及19个意大利实验室联盟的研究。
Oncotarget. 2017 May 16;8(20):32608-32617. doi: 10.18632/oncotarget.15940.
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The relevance of a low JAK2V617F allele burden in clinical practice: a monocentric study.低JAK2V617F等位基因负荷在临床实践中的相关性:一项单中心研究。
Oncotarget. 2017 Jun 6;8(23):37239-37249. doi: 10.18632/oncotarget.16744.
8
Clinical and biological characterization of patients with low (0.1-2%) JAK2V617F allele burden at diagnosis.诊断时JAK2V617F等位基因负荷低(0.1-2%)的患者的临床和生物学特征
Haematologica. 2014 Jul;99(7):e98-101. doi: 10.3324/haematol.2014.107656. Epub 2014 May 16.
9
Does increasing the JAK2V617F assay sensitivity allow to identify more patients with MPN?提高JAK2V617F检测的灵敏度是否能识别出更多骨髓增殖性肿瘤患者?
Blood Cancer J. 2012 May;2(5):e70. doi: 10.1038/bcj.2012.15. Epub 2012 May 4.
10
Uses and abuses of JAK2 and MPL mutation tests in myeloproliferative neoplasms a paper from the 2010 William Beaumont hospital symposium on molecular pathology.JAK2 和 MPL 基因突变检测在骨髓增殖性肿瘤中的应用与滥用——来自 2010 年威廉博蒙特医院分子病理学研讨会的论文。
J Mol Diagn. 2011 Sep;13(5):461-6. doi: 10.1016/j.jmoldx.2011.05.007. Epub 2011 Jun 30.