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CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy

journal of Genetics and Genomics 2024年第2期51卷 184-196页

作者： Yan Shi Chunyan cao Yiheng Zeng Yuanliang Ding Long Chen Fuze Zheng Xuejiao Chen Fanggui Zhou Xiefeng Yang jinjing Li Liuqing Xu Guorong Xu Minting Lin Hiroyuki Ishiura Shoji Tsuji Ning Wang Zhiqiang Wang Wan-jin Chen Kang Yang Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of NeuroscienceFujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian 350005China Department of Neurology National Regional Medical CenterBinhai Campus of the First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350212China The First Affiliated Hospital College of Clinical Medicine of Henan University of Science and TechnologyLuoyangHenan 471000China Department of Neurology Zhangzhou Municipal Hospital of Fujian Province and Zhangzhou Affiliated Hospital of Fujian Medical UniversityZhangzhouFujian 363000China Department of Neurology Jian'ou Municipal Hospital of Fujian ProvinceJian'ouFujian 353100China Department of Radiology First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian 350005China Department of Neurology Graduate School of MedicineThe University of TokyoTokyo 113-8655Japan Department of Neurology Okayama University Graduate School of MedicineDentistry and Pharmaceutical SciencesOkayama 700-8558Japan Institute of Medical Genomics International University of Health and WelfareChiba 286-0048Japan

CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with ***,since only three patients from a single family were reported,it remains unknown whether their clinicopathological features are typical for CGG repeat expansions in LOC642361/***,using repeat-primed-polymerase chain reaction and long-read sequencing,we identify 12 individuals from 3 unrelated families with CGG repeat expansions in LOC642361/NUTM2B-AS1,typically presenting with oculopharyngodistal *** CGG repeat expansions range from 161 to 669 repeat *** of the patients present with ptosis,restricted eye movements,dysphagia,dysarthria,and diffuse limb muscle *** one patient shows T2-weighted hyperintensity in the cerebellar white matter surrounding the deep cerebellar nuclei on brain magnetic resonance *** biopsies from three patients show a myopathic pattern and rimmed *** of muscle biopsies suggest that CGG repeat expansions in LOC642361/NUTM2B-AS1 may deleteriously affect aggrephagic capacity,suggesting that RNA toxicity and mitochondrial dysfunction may contribute to *** study thus expands the phenotypic spectrum for the CGG repeat expansion of LOC642361/NUTM2B-AS1 and indicates that this genetic variant typically manifests as oculopharyngodistal myopathy with chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions in muscle fibers.

关键词： Oculopharyngeal myopathy with leukoencephalopathy Oculopharyngodistal myopathy CGG repeat expansion Rimmed vacuoles

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Systematic approaches to improving the performance of polyoxometalates in non-aqueous redox flow batteries

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journal of Energy Chemistry 2020年第11期29卷 115-124页

作者： Yuan cao jee-jay j.Chen Mark A.Barteau Department of Chemical Engineering University of MichiganAnn ArborMI 48109United States Applied Materials 14J Fuller RoadAlbanyNY 12203United States Department of Chemical Engineering and Department of Chemistry Texas A&M UniversityCollege StationTX 77843United States

Polyoxometalates have been explored as multi-electron active species in both aqueous and non-aqueous redox flow batteries. Although non-aqueous systems in principle offer a wider voltage window for redox flow battery operation, realization of this potential requires a judicious choice of solvent as well as polyoxometalate properties. We demonstrate here the superior performance of N,N-dimethylformamide(DMF)compared to acetonitrile as a solvent for redox flow batteries based on Li3PMo12O40. This compound displays two 1-electron transfers in acetonitrile but can access an extra quasi-reversible 2-electron redox process in DMF. A cell containing 10 mM solution of Li3PMo12O40 in DMF produced a cell voltage of 0.7 V with 2-electron transfers(State of Charge = 60%) and showed a good cyclability. As a means to boost energy density, operation of the redox flow battery at a higher concentration of 0.1 M Li3PMo12O40 produced cells with cell voltage of 0.6 V in acetonitrile and a cell voltage of 1.0 V in DMF;both showed excellent coulombic efficiencies of more than 90% over the course of 30 cycles. Energy density was also increased by employing an asymmetric cell with different polyoxometalates on each side to extend cell ***6P2W18O62 exhibited 3 quasi-reversible 2-electron transfers in the potential range between-2.05 V and-0.5 V vs. Ag/Ag+. 10 mM Li6P2W18O62/Li3PMo12O40 in DMF produced a cell with cell voltage of 1.3 V involving 4-electron transfers(State of Charge = 50%) with coulombic efficiency of nearly 100% and energy efficiency of nearly 70% throughout the test with more than 20 cycles. These promising results demonstrate proof-of-concept approaches to improving the performance of polyoxometalates in non-aqueous redox flow batteries.

关键词： Polyoxometalate Energy density Redox flow battery Non-aqueous battery Cyclic voltammetry Bulk electrolysis

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Releasing the residual stress of C_(f)/SiC-GH3536 joint by designing an Ag-Cu-Ti+Sc_(2)(WO_(4))_(3) composite filler metal

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journal of Materials Science & Technology 2022年第13期108卷 102-109页

作者： P.Wang X.Liu H.Wang j.cao j.Qi j.Feng State Key Laboratory of Advanced Welding and joining Harbin Institute of TechnologyHarbin 150001China

Due to native character of thermal expansion coefficient(CTE)mismatch between C_(f)/SiC and GH3536,achieving high strength joint was a huge challenge for C_(f)/SiC-GH3536 ***,a composite filler metal of Ag-Cu-Ti+Sc_(2)(WO_(4))_(3) was developed to join C_(f)/SiC and *** work introduced Sc_(2)(WO_(4))_(3) to Ag-Cu-Ti system as a negative thermal expansion(NTE)reinforcing phase to release joint residual ***_(2)(WO_(4))_(3) was evenly distributed in the brazing seam and reacted with Ti to form Ti_(3)O_(5) reaction *** results of finite element analysis showed that the residual stress of the joints was effectively released by introducing Sc_(2)(WO_(4))_(3) reinforcing phase,and the mises stress was decreased from447 to 401 *** maximum shear strength of the C_(f)/SiC-GH3536 joint brazed with Ag-Cu-Ti+6 vol%Sc_(2)(WO_(4))_(3) filler alloys was 64 MPa,which was about 2.6 times higher than that of Ag-Cu-Ti *** results of this study provide a promising strategy for the introduction of new Sc_(2)(WO_(4))_(3) reinforcing phase in Ag-Cu-Ti system,and improve the reliability and feasibility of composite brazing alloy in brazing filed.

关键词： Negative thermal expansion Brazing Residual stress Composite brazing alloy CTE

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Harnessing sub-organelle metabolism for biosynthesis of isoprenoids in yeast

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Synthetic and Systems Biotechnology 2020年第3期5卷 179-186页

作者： Xuan cao Shan Yang Chunyang cao Yongjin j.Zhou Division of Biotechnology Dalian Institute of Chemical PhysicsChinese Academy of Sciences457 Zhongshan RoadDalian116023PR China CAS Key Laboratory of Separation Science for Analytical Chemistry Dalian Institute of Chemical PhysicsChinese Academy of SciencesDalian116023PR China Dalian Key Laboratory of Energy Biotechnology Dalian Institute of Chemical PhysicsChinese Academy of SciencesDalian116023PR China University of Chinese Academy of Sciences Beijing100049PR China School of Food Science and Technology Dalian Polytechnic UniversityDalian116034PR China

Current yeast metabolic engineering in isoprenoids production mainly focuses on rewiring of cytosolic metabolic ***,the precursors,cofactors and the enzymes are distributed in various sub-cellular compartments,which may hamper isoprenoid *** the other side,pathway compartmentalization provides several advantages for improving metabolic flux toward target *** here summarize the recent advances on harnessing sub-organelle for isoprenoids biosynthesis in yeast,and analyze the knowledge about the localization of enzymes,cofactors and metabolites for guiding the rewiring of the sub-organelle *** review may provide some insights for constructing efficient yeast cell factories for production of isoprenoids and even other natural products.

关键词： Isoprenoids Yeast Compartmentalization Sub-organelle metabolism

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Event-triggered bipartite consensus over cooperation-competition networks under DoS attacks

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Science China(Technological Sciences) 2021年第1期64卷 157-168页

作者： HU AiHua PARK j H cao jinDe HU ManFeng LUO YiPing School of Science Jiangnan UniversityWuxi 214122China Department of Electrical Engineering Yeungnam UniversityKyongsan 38541Korea School of Mathematics Southeast UniversityNanjing 210096China College of Electrical and Information Engineering Hunan Institute of EngineeringXiangtan 411104China

This paper addresses the bipartite consensus over cooperation-competition networks affected by denial-of-service(DoS) *** that a network consists of multiple interactive agents, and the relationship between neighboring agents is cooperative or competitive. Meanwhile, information transmission among the agents is unavailable during the intervals of attacks. In order to save communication resources and exclude the Zeno behavior, an event-triggered scheme depending on the sampled-data information from neighboring agents is proposed, and efficient defense strategies in response to the attacks are put *** that the frequency and duration of DoS attacks meet certain requirements, then according to the signed graph theory,the La Salle’s invariance principle, and the convergence of monotone sequences, the results of bipartite consensus via the eventtriggered protocol are provided, which are mainly related to the communication topology of the network, the sampling period,and the threshold parameters in the event-triggered scheme. It is shown that the bipartite consensus is realized even though the DoS attacks take place frequently. Furthermore, this paper discusses the bipartite consensus in the presence of DoS attacks with a random unsuccessful rate. Finally, numerical simulations illustrate the theoretical results.

关键词： bipartite consensus denial-of-service(DoS)attack event-triggered scheme structural balance multiagent system

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Amplitude analysis of the decays D^(0)→π^(+)π^(−)π^(+)π^(−)and D^(0)→π^(+)π^(−)π^(0)π^(0)

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Chinese Physics C 2024年第8期48卷 6-33页

作者： M.Ablikim M.N.Achasov P.Adlarson O.Afedulidis X.C.Ai R.Aliberti A.Amoroso Q.An Y.Bai O.Bakina I.Balossino Y.Ban H.-R.Bao V.Batozskaya K.Begzsuren N.Berger M.Berlowski M.Bertani D.Bettoni F.Bianchi E.Bianco A.Bortone I.Boyko R.A.Briere A.Brueggemann H.Cai X.Cai A.Calcaterra G.F.cao N.cao S.A.Cetin j.F.Chang W.L.Chang G.R.Che G.Chelkov C.Chen C.H.Chen Chao Chen G.Chen H.S.Chen M.L.Chen S.j.Chen S.L.Chen S.M.Chen T.Chen X.R.Chen X.T.Chen Y.B.Chen Y.Q.Chen Z.j.Chen Z.Y.Chen S.K.Choi X.Chu G.Cibinetto F.Cossio j.j.Cui H.L.Dai j.P.Dai A.Dbeyssi R.E.de Boer D.Dedovich C.Q.Deng Z.Y.Deng A.Denig I.Denysenko M.Destefanis F.De Mori B.Fang S.S.Fang W.X.Fang Y.Fang Y.Q.Fang R.Farinelli L.Fava F.Feldbauer G.Felici C.Q.Feng j.H.Feng Y.T.Feng K.Fischer M.Fritsch C.D.Fu j.L.Fu Y.W.Fu H.Gao Y.N.Gao Yang Gao S.Garbolino I.Garzia P.T.Ge Z.W.Ge C.Geng E.M.Gersabeck B.Ding X.X.Ding Y.Ding Y.Ding j.Dong L.Y.Dong M.Y.Dong X.Dong M.C.Du S.X.Du Z.H.Duan P.Egorov Y.H.Fan j.Fang jA.Gilman K.Goetzen L.Gong W.X.Gong W.Gradl S.Gramigna M.Greco M.H.Gu Y.T.Gu C.Y.Guan Z.L.Guan A.Q.Guo L.B.Guo M.j.Guo R.P.Guo Y.P.Guo A.Guskov j.Gutierrez K.L.Han T.T.Han X.Q.Hao F.A.Harris K.K.He K.L.He F.H.Heinsius C.H.Heinz Y.K.Heng C.Herold T.Holtmann P.C.Hong G.Y.Hou X.T.Hou Y.R.Hou Z.L.Hou B.Y.Hu H.M.Hu j.F.Hu T.Hu Y.Hu G.S.Huang K.X.Huang L.Q.Huang X.T.Huang Y.P.Huang T.Hussain F.H\"olzken N.H\"usken N.in der Wiesche M.Irshad j.jackson S.janchiv j.H.jeong Q.ji Q.P.ji W.ji X.B.ji X.L.ji Y.Y.ji X.Q.jia Z.K.jia D.jiang H.B.jiang P.C.jiang S.S.jiang T.j.jiang X.S.jiang Y.jiang j.B.jiao j.K.jiao Z.jiao S.jin Y.jin M.Q.jing X.M.jing T.johansson S.Kabana N.Kalantar-Nayestanaki X.L.Kang X.S.Kang M.Kavatsyuk B.C.Ke V.Khachatryan A.Khoukaz R.Kiuchi O.B.Kolcu B.Kopf M.Kuessner X.Kui A.Kupsc W.K\"uhn j.j.Lane P.Larin L.Lavezzi T.T.Lei Z.H.Lei H.Leithoff M.Lellmann T.Lenz C.Li C.Li C.H.Li Cheng Li D.M.Li F.Li G.Li H.Li H.B.Li H.j.Li H.N.Li Hui Li j.R.Li j.S.Li K.Li L.j.Li L.K.Li Lei Li M.H.Li P.R.Li Q.M.Li Q.X.Li R.Li S.X.Li T.Li W.D.Li W.G.Li X.Li X.H.Li X.L.Li X.Y.Li Y Institute of High Energy Physics Chinese Academy of SciencesBeijing 100049China Beihang University Beijing 100191China Bochum Ruhr-University D-44780 BochumGermany Budker Institute of Nuclear Physics SB RAS(BINP) Novosibirsk 630090Russia Carnegie Mellon University PittsburghPennsylvania 15213USA Central China Normal University Wuhan 430079China Central South University Changsha 410083China China Center of Advanced Science and Technology Beijing 100190China China University of Geosciences Wuhan 430074China Chung-Ang University Seoul06974Republic of Korea COMSATS University Islamabad Lahore CampusDefence RoadOff Raiwind Road54000 LahorePakistan Fudan University Shanghai 200433China GSI Helmholtzcentre for Heavy Ion Research GmbH D-64291 DarmstadtGermany Guangxi Normal University Guilin 541004China Guangxi University Nanning 530004China Hangzhou Normal University Hangzhou 310036China Hebei University Baoding 071002China Helmholtz Institute Mainz Staudinger Weg 18D-55099 MainzGermany Henan Normal University Xinxiang 453007China Henan University Kaifeng 475004China Henan University of Science and Technology Luoyang 471003China Henan University of Technology Zhengzhou 450001China Huangshan College Huangshan 245000China Hunan Normal University Changsha 410081China Hunan University Changsha 410082China Indian Institute of Technology Madras Chennai 600036India Indiana University BloomingtonIndiana 47405USA INFN Laboratori Nazionali di Frascati INFN Laboratori Nazionali di FrascatiI-00044FrascatiItaly INFN Laboratori Nazionali di Frascati INFN Sezione di PerugiaI-06100PerugiaItaly INFN Laboratori Nazionali di Frascati University of PerugiaI-06100PerugiaItaly INFN Sezione di Ferrara INFN Sezione di FerraraI-44122FerraraItaly INFN Sezione di Ferrara University of FerraraI-44122FerraraItaly Inner Mongolia University Hohhot 010021China Institute of Modern Physics Lanzhou 730000China Institute of Physics and Technology Peace Avenue 54BUlaanbaatar 13330Mongolia Instituto de A

Using e^(+)e^(−)annihilation data corresponding to an integrated luminosity of 2.93 fb^(−1)taken at the center-of-mass energy√s=3.773 GeV with the BESIII detector,a joint amplitude analysis is performed on the decays D^(0)→π^(+)π^(−)π^(+)π^(−)and D^(0)→π^(+)π^(−)π^(0)π^(0)(non-η).The fit fractions of individual components are obtained,and large interferences among the dominant components of the decays D^(0)→a_(1)(1260)π,D^(0)→π(1300)π,D^(0)→ρ(770)ρ(770),and D^(0)→2(ππ)_(S)are observed in both *** the obtained amplitude model,the CP-even fractions of D^(0)→π^(+)π^(−)π^(+)π^(−)and D^(0)→π^(+)π^(−)π^(0)π^(0)(non-η)are determined to be(75.2±1.1_(stat).±1.5_(syst.))%and(68.9±1.5_(stat).±2.4_(syst.))%,*** branching fractions of D^(0)→π^(+)π^(−)π^(+)π^(−)and D^(0)→π^(+)π^(−)π^(0)π^(0)(non-η)are measured to be(0.688±0.010_(stat.)±0.010_(syst.))%and(0.951±0.025_(stat.)±0.021_(syst.))%,*** amplitude analysis provides an important model for the binning strategy in measuring the strong phase parameters of D^(0)→4πwhen used to determine the CKM angleγ(ϕ_(3))via the B^(−)→DK^(−)decay.

关键词： BESIII D^(0)meson decays amplitude analysis CP-even fraction

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大孔径太赫兹波成像光学系统设计

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中国光学（中英文） 2024年第2期17卷 374-381页

作者：曹一青沈志娟莆田学院机电与信息工程学院福建莆田351100 福建省激光精密加工工程技术研究中心福建莆田351100

太赫兹波具有高穿透性、低能性及指纹谱性等特征,被广泛应用于探测领域,因此,设计太赫兹波成像光学系统具有重要的意义和广泛的应用前景。首先,以四块透镜构成的天塞物镜为参考结构,应用近轴光学系统像差理论构建系统像差平衡方程,给出... 详细信息

太赫兹波具有高穿透性、低能性及指纹谱性等特征,被广泛应用于探测领域,因此,设计太赫兹波成像光学系统具有重要的意义和广泛的应用前景。首先,以四块透镜构成的天塞物镜为参考结构,应用近轴光学系统像差理论构建系统像差平衡方程,给出了系统初始结构参数求解函数和方法,再结合光学设计软件进一步校正系统像差,最终设计了一种用于太赫兹波探测的大孔径光学成像系统。该光学系统由4块同轴折射透镜构成,焦距为70 mm,F数为1.4,全视场角为8°,在奈奎斯特频率10 lp/mm处全视场角范围内的调制传递函数(MTF)值均大于0.32,各视场内的弥散斑均方根(RMS)半径均小于艾里斑半径。最后对系统各种公差进行分析和讨论。设计结果表明,本文设计的太赫兹波探测光学成像系统具有孔径大、结构简单且紧凑、成像质量较好且加工性易于实现等特点,满足设计要求,它在太赫兹波段高分辨率探测领域具有重要应用价值。

关键词：光学系统设计太赫兹波大孔径像差平衡公差分析

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Dual effect of Cu on the Al3Sc nanoprecipitate coarsening

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journal of Materials Science & Technology 2020年第2期37卷 38-45页

作者： Y.H.Gao L.F.cao j.Kuang j.Y.Zhang G.Liu j.Sun State Key Laboratory for Mechanical Behavior of Materials Xi’an Jiaotong UniversityXi’an710049China International joint Laboratory for Light Alloys(Ministry of Education) Chongqing UniversityChongqing 400044China

It is generally considered that the Al3Sc nanoprecipitates are highly thermal stable,mainly due to quite slow Sc diffusion in theα-Al *** this paper,we demonstrate in an Al-Cu-Sc alloy that the Cu atoms have dual effect on the coarsening of Al3Sc *** the one hand,the Cu atoms with high diffusivity tend to accelerate the Al3Sc coarsening,which results from the Cu-promoted Sc *** the other hand,some Cu atoms will segregate at the Al3Sc/matrix interface,which further stabilizes the Al3Sc nanoprecipitates by reducing the interfacial *** between these two effects is tailored by temperature,which rationalizes the experimental findings that the coarsening kinetics of Al3Sc nanoprecipitate is greatly boosted at 300℃-overaging while significantly suppressed at 400℃-overaging.

关键词： Al alloys Precipitate coarsening Interfacial segregation Microstructural evolution

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The Efficiency Analysis and A Market Decision Model on Equipment Maintenance

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journal of Systems Engineering and Electronics 2001年第3期12卷 31-38页

作者： Zhang, G. cao, X. Wang, j. College of Economics and Management Guangdong University of Technology Guangzhou 510090 P. R. China

This paper presents and analyses the internal and external efficiencies of equipment maintenance, and presents that the objective of maintenance is the maximum external efficiency. It defines generalized reliability degree of equipment and deduces the correspondent calculating method. It overcomes the defect that traditional calculating method of reliability degree has, which only considers the factor of time not function, therefore we establish a market decision model of equipment maintenance based on it. This model can determine the marginal efficiency of maintenance investment and critical value of generalized reliability degree when it reaches break-even point. After combining the equipment maintenance with economical benefit of enterprise and marketing situation of products, an optimal maintenance strategy will be got. It provides a new method for scientific and rational decisions of equipment maintenance.

关键词： Market decision model Equipment maintenance Generalized reliability degree.

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STUDY OF THE X70 PIPELINE STEEL CORRODING IN 3.0wt% NaCl SOLUTION USING ELECTROCHEMICAL IMPEDANCE SPECTROSCOPY TECHNIQUE

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Acta Metallurgica Sinica(English Letters) 2004年第6期17卷 907-911页

作者： L.j.Zhang Z.Zhang F.H.cao j.Q.Zhang j.M.Wang C.N.cao DepartmentofChemistry ZhejiangUniversityHangzhou310027China DepartmentofChemistry ZhejiangUniversityHangzhou310027China／／ StateKeyLaboratoryforCorrosionandProtectionofMetalsInstituteofMetalResearchTheChineseAcademyofSciencesSlaenyang110016China

The corrosion process of the X70 pipeline steel in 3.0wt% NaCl solution were studied using polarization method, and the chronological characteristics during the entire polarization plot were investigated in detail using EIS technique. In the active region of X70 steel, such as 20mV potential bias applied on open circuit potential (OCP), the impedance spectra was comprised of three parts: a high-frequency capacitive loop, a middle-frequency capacitive loop and a low-frequency inductive component. When positive polarization potential increased, the capacitive loops at high and middle frequency range merged, and the inductive component at low frequency shrunk. At high positive polarization potential bias (500-800mV vs. OCP), the high-frequency capacitive loop and the low-frequency inductive loop exhibited as disheveled points due to the synergism of the inhomogeneity of the corroding material and the localized corrosion. The results were fitted utilizing the equivalent circuits to simulate the impedance spectra and to interpret the electrochemical features shown during the experiments.

关键词： X70 pipeline steel corrosion polarization EIS

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