For: | Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, Bao KR, Yu LH, Wang MX. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol 2004; 10(4): 590-593 [PMID: 14966923 DOI: 10.3748/wjg.v10.i4.590] |
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URL: | https://www.wjgnet.com/1007-9327/full/v10/i4/590.htm |
Number | Citing Articles |
1 |
Wei‑Liang Liu, Fang Li, Lu Liu, Wei Chen, Zhi‑Xu He, Hao Gu, Rong Ai. A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing. Molecular Medicine Reports 2019; doi: 10.3892/mmr.2019.10830
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2 |
Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Akihiko Shimomura, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Yosuke Omae, Reiko Miyahara, Hideyuki Shimanuki, Yosuke Kawai, Katsushi Tokunaga, Yoshihisa Yamano. Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy. Human Genome Variation 2024; 11(1) doi: 10.1038/s41439-024-00283-y
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3 |
Chloe Miu Mak, Ching-Wan Lam, Sidney Tam, Ching-Lung Lai, Lik-Yuen Chan, Sheung-Tat Fan, Yu-Lung Lau, Jak-Yiu Lai, Patrick Yuen, Joannie Hui, Chun-Cheung Fu, Ka-Sing Wong, Wing-Lai Mak, Kong Tze, Sui-Fan Tong, Abby Lau, Nancy Leung, Aric Hui, Ka-Ming Cheung, Chun-Hung Ko, Yiu-Ki Chan, Oliver Ma, Tai-Nin Chau, Alexander Chiu, Yan-Wo Chan. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity. Journal of Human Genetics 2008; 53(1): 55 doi: 10.1007/s10038-007-0218-2
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4 |
Wen-jie Li, Jun-feng Wang, Xiao-ping Wang. Wilson’s disease: Update on integrated Chinese and Western medicine. Chinese Journal of Integrative Medicine 2013; 19(3): 233 doi: 10.1007/s11655-012-1089-8
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5 |
Susan M. Kenney, Diane W. Cox. Sequence variation database for the Wilson disease copper transporter,ATP7B. Human Mutation 2007; 28(12): 1171 doi: 10.1002/humu.20586
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6 |
Lorenzo Leggio, Noemi Malandrino, Georgios Loudianos, Ludovico Abenavoli, Maria Barbara Lepori, Esmeralda Capristo, Stefano De Virgiliis, Giovanni Gasbarrini, Giovanni Addolorato. Analysis of the T1288R Mutation of the Wilson Disease ATP7B Gene in Four Generations of a Family: Possible Genotype-Phenotype Correlation with Hepatic Onset. Digestive Diseases and Sciences 2007; 52(10): 2570 doi: 10.1007/s10620-006-9666-3
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7 |
Suporn Treepongkaruna, Paneeya Pienvichit, Pornpimon Phuapradit, Porawee Kodcharin, Duangrurdee Wattanasirichaigoon. Mutations of ATP7B gene in two Thai siblings with Wilson disease. Asian Biomedicine 2010; 4(1): 163 doi: 10.2478/abm-2010-0020
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8 |
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9 |
Mingming Li, Jing Ma, Wenlong Wang, Xu Yang, Kaizhong Luo. Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease. BMC Gastroenterology 2021; 21(1) doi: 10.1186/s12876-021-01911-5
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10 |
Hartmut H.-J. Schmidt. Role of genotyping in Wilson’s disease. Journal of Hepatology 2009; 50(3): 449 doi: 10.1016/j.jhep.2008.11.008
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11 |
Yu-Mei Li, Guo-Ming Lu, Xiao-Ping Zou, Zhao-Shen Li, Gui-Yong Peng, Dian-Chun Fang. Dynamic functional and ultrastructural changes of gastric parietal cells induced by water immersion-restraint stress in rats. World Journal of Gastroenterology 2006; 12(21): 3368-3372 doi: 10.3748/wjg.v12.i21.3368
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12 |
Elchanan Nussinson, Azmi Shahbari, Fahmi Shibli, Elena Chervinsky, Philippe Trougouboff, Arie Markel. Diagnostic challenges of Wilson’s disease presenting as acute pancreatitis, cholangitis, and jaundice. World Journal of Hepatology 2013; 5(11): 649-653 doi: 10.4254/wjh.v5.i11.649
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13 |
Christine Lo, Oliver Bandmann. Wilson Disease. Handbook of Clinical Neurology 2017; 142: 7 doi: 10.1016/B978-0-444-63625-6.00002-1
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14 |
Laimutis Kucinskas, Jolanta Jeroch, Astra Vitkauskiene, Raimundas Sakalauskas, Vitalija Petrenkiene, Vaidutis Kucinskas, Rima Naginiene, Hartmut Schmidt, Limas Kupcinskas. High frequency of the c.3207C>A (p.H1069Q) mutation in <italic>ATP7B</italic> gene of Lithuanian patients with hepatic presentation of Wilson’s disease. World Journal of Gastroenterology 2008; 14(38): 5876-5879 doi: 10.3748/wjg.14.5876
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15 |
Xiang-Zhen Yuan, Ren-Min Yang, Xiao-Ping Wang. Management Perspective of Wilson’s Disease: Early Diagnosis and Individualized Therapy. Current Neuropharmacology 2021; 19(4): 465 doi: 10.2174/1570159X18666200429233517
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16 |
Svetlana Lutsenko.
Atp7b
−/− mice as a model for studies of Wilson's disease. Biochemical Society Transactions 2008; 36(6): 1233 doi: 10.1042/BST0361233
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17 |
Li-Hua Wang, Ye-Qing Huang, Xuan Shang, Quan-Xi Su, Fu Xiong, Qing-Yun Yu, Hui-Ping Lin, Zhi-Sheng Wei, Ming-Fan Hong, Xiang-Min Xu. Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. Journal of Human Genetics 2011; 56(9): 660 doi: 10.1038/jhg.2011.76
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18 |
Xin-Hua Li, Yi Lu, Yun Ling, Qing-Chun Fu, Jie Xu, Guo-Qing Zang, Feng Zhou, Yu De-Min, Yue Han, Dong-Hua Zhang, Qi-Ming Gong, Zhi-Meng Lu, Xiao-Fei Kong, Jian-She Wang, Xin-Xin Zhang. Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations. BMC Medical Genetics 2011; 12(1) doi: 10.1186/1471-2350-12-6
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19 |
Juan Tu, Chaoying Chen, Huarong Li, Mei Chu, Haiyun Geng. A special case of recurrent gross hematuria: Answers. Pediatric Nephrology 2017; 32(2): 273 doi: 10.1007/s00467-015-3265-5
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20 |
Gursimran Chandhok, Judit Horvath, Annu Aggarwal, Mohit Bhatt, Andree Zibert, Hartmut HJ Schmidt. Functional analysis and drug response to zinc and D-penicillamine in stable <i>ATP7B</i> mutant hepatic cell lines. World Journal of Gastroenterology 2016; 22(16): 4109-4119 doi: 10.3748/wjg.v22.i16.4109
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21 |
Sangwook Park, Jung-Young Park, Gu-Hwan Kim, Jin-Ho Choi, Kyung-Mo Kim, Jong-Bae Kim, Han-Wook Yoo. Identification of novelATP7Bgene mutations and their functional roles in Korean patients with Wilson disease. Human Mutation 2007; 28(11): 1108 doi: 10.1002/humu.20574
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22 |
Marc Bierings, Peter T. Clayton, Roderick H.J. Houwen. Inborn Metabolic Diseases. 2012; : 535 doi: 10.1007/978-3-642-15720-2_38
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23 |
Naama Orenstein, Yael Mozer Glassberg, Vered Shkalim-Zemer, Lina Basel-Salmon, Noa Shefer Averbuch, Irina Lagovsky, Anat Guz Mark, Achiya Z. Amir, Lily Bazak, Shiri Cooper, Yael Goldberg. Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel. Gene 2023; 887: 147728 doi: 10.1016/j.gene.2023.147728
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24 |
Lucia Giuli, Francesco Santopaolo, Maria Pallozzi, Antonio Pellegrino, Gaetano Coppola, Antonio Gasbarrini, Francesca Romana Ponziani. Cellular therapies in liver and pancreatic diseases. Digestive and Liver Disease 2023; 55(5): 563 doi: 10.1016/j.dld.2022.11.013
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25 |
Mikhail Garbuz, Anna Ovchinnikova, Vadim Kumeiko. Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson’s Disease Using a Panel of 14 Common Mutations for the European Population. Genes 2022; 13(11): 1940 doi: 10.3390/genes13111940
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26 |
Zhisheng Wei, Yeqing Huang, Aiqun Liu, Shengpeng Diao, Qingyun Yu, Zhongxing Peng, Mingfan Hong. Mutational characterization of ATP7B gene in 103 Wilson’s disease patients from Southern China. NeuroReport 2014; 25(14): 1075 doi: 10.1097/WNR.0000000000000216
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27 |
Jianli Zhou, Qiao Zhang, Yuzhen Zhao, Moxian Chen, Shaoming Zhou, Yongwei Cheng. Early Diagnosis of Wilson’s Disease in Children in Southern China by Using Common Parameters. Frontiers in Genetics 2022; 13 doi: 10.3389/fgene.2022.788658
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28 |
Kassem Barada, Mazen El-Atrache, Ihab I. El-Hajj, Khaled Rida, Jida El-Hajjar, Ziyad Mahfoud, Julnar Usta. Homozygous Mutations in the Conserved ATP Hinge Region of the Wilson Disease Gene. Journal of Clinical Gastroenterology 2010; 44(6): 432 doi: 10.1097/MCG.0b013e3181ce5138
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29 |
Eun Joo Chung, Eung Gyu Kim, Sang Jin Kim, Ki-Hwan Ji, Jung Hwa Seo. Wilson’s disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment. Neurocase 2016; 22(1): 40 doi: 10.1080/13554794.2015.1032977
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30 |
Chloe M. Mak, Ching-Wan Lam, Sik-To Lai, Yui Hui, Sidney Tam. Rapid diagnosis of Wilson disease by a 28-mutation panel: Real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure. Clinica Chimica Acta 2008; 398(1-2): 39 doi: 10.1016/j.cca.2008.08.002
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31 |
Jian-She Wang, Kuerbanjiang Abuduxikuer. Clinical and Translational Perspectives on WILSON DISEASE. 2019; : 345 doi: 10.1016/B978-0-12-810532-0.00033-1
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32 |
Madhuri Behari, Vibhor Pardasani. Genetics of Wilsons disease. Parkinsonism & Related Disorders 2010; 16(10): 639 doi: 10.1016/j.parkreldis.2010.07.007
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33 |
Fei Wu, Jing Wang, Chunwen Pu, Liang Qiao, Chunmeng Jiang. Wilson’s Disease: A Comprehensive Review of the Molecular Mechanisms. International Journal of Molecular Sciences 2015; 16(3): 6419 doi: 10.3390/ijms16036419
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34 |
N. Cheng, H. Wang, W. Wu, R. Yang, L. Liu, Y. Han, L. Guo, J. Hu, L. Xu, J. Zhao, Y. Han, Q. Liu, K. Li, X. Wang, W. Chen. Spectrum of ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease. Clinical Genetics 2017; 92(1): 69 doi: 10.1111/cge.12951
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35 |
Juan-Juan Xie, Zhi-Ying Wu. Wilson’s Disease in China. Neuroscience Bulletin 2017; 33(3): 323 doi: 10.1007/s12264-017-0107-4
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36 |
Chen Chen, Bo Shen, Jia-Jia Xiao, Rong Wu, Sarah Jane Duff Canning, Xiao-Ping Wang. Currently Clinical Views on Genetics of Wilson's Disease. Chinese Medical Journal 2015; 128(13): 1826 doi: 10.4103/0366-6999.159361
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37 |
Michelle Angela Camarata, Si Houn Hahn. Wilson Disease. 2019; : 105 doi: 10.1016/B978-0-12-811077-5.00009-8
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38 |
Ralf Weiskirchen, Louis C. Penning. COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancer. Journal of Trace Elements in Medicine and Biology 2021; 65: 126712 doi: 10.1016/j.jtemb.2021.126712
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39 |
Kok-Siong Poon, Zhe Hao Teo, Jun Hean Yap, Evelyn SC Koay, Karen Tan. Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory. Journal of Clinical Pathology 2020; 73(4): 231 doi: 10.1136/jclinpath-2019-206054
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40 |
Aniko Folhoffer, Peter Ferenci, Timea Csak, Andrea Horvath, Dalma Hegedus, Gabor Firneisz, Janos Osztovits, Janos Pal Kosa, Claudia Willheim-Polli, Laszlo Szonyi, Margit Abonyi, Peter Laszlo Lakatos, Ferenc Szalay. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson??s disease. European Journal of Gastroenterology & Hepatology 2007; 19(2): 105 doi: 10.1097/01.meg.0000223904.70492.0b
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41 |
Chloe M. Mak, Ching-Wan Lam. Diagnosis of Wilson's Disease: A Comprehensive Review. Critical Reviews in Clinical Laboratory Sciences 2008; 45(3): 263 doi: 10.1080/10408360801991055
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42 |
Ozlenen Simsek Papur, Sezin Asik Akman, Raif Cakmur, Orhan Terzioglu. Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations. European Journal of Medical Genetics 2013; 56(4): 175 doi: 10.1016/j.ejmg.2013.01.003
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43 |
Chin-Wen Lin, Tze-Kiong Er, Fu-Jen Tsai, Ta-Chi Liu, Pang-Yin Shin, Jan-Gowth Chang. Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations. Clinica Chimica Acta 2010; 411(17-18): 1223 doi: 10.1016/j.cca.2010.04.030
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44 |
Julnar Usta, Hussein Abu Daya, Houssam Halawi, Ibraheem Al-Shareef, Omar El-Rifai, Ahmad H. Malli, Ala I. Sharara, Robert H. Habib, Kassem Barada. JIMD Reports - Case and Research Reports, 2012/1. JIMD Reports 2011; 4: 129 doi: 10.1007/8904_2011_91
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45 |
Peter Ferenci. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Human Genetics 2006; 120(2): 151 doi: 10.1007/s00439-006-0202-5
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46 |
A. Gupta, D. Aikath, R. Neogi, S. Datta, K. Basu, B. Maity, R. Trivedi, J. Ray, S. K. Das, P. K. Gangopadhyay, K. Ray. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients. Human Genetics 2005; 118(1): 49 doi: 10.1007/s00439-005-0007-y
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47 |
Sandeep Kumar, Baburam Thapa, Gurjit Kaur, Rajendra Prasad. Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activity. Molecular and Cellular Biochemistry 2007; 294(1-2): 1 doi: 10.1007/s11010-005-9028-z
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48 |
Ziru Xue, Hongyu Chen, Lan Yu, Peifang Jiang. A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China. Pediatric Neurology 2023; 145: 135 doi: 10.1016/j.pediatrneurol.2023.04.026
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49 |
Peter M. van Hasselt, Peter T. Clayton, Roderick H. J. Houwen. Inborn Metabolic Diseases. 2016; : 531 doi: 10.1007/978-3-662-49771-5_37
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50 |
Le Anh Tuan Pham, Trong Tue Nguyen, Hoang Bich Nga Le, Dat Quoc Tran, Cam Tu Ho, Thinh Huy Tran, Van Thanh Ta, The Hung Bui, Van Khanh Tran. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B. Journal of Genetics 2017; 96(6): 933 doi: 10.1007/s12041-017-0857-9
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51 |
Zhe-Feng Yuan, Wei Wu, Yong-Lin Yu, Jue Shen, Shan-Shan Mao, Feng Gao, Zhe-Zhi Xia. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson’s disease. World Journal of Pediatrics 2015; 11(3): 255 doi: 10.1007/s12519-015-0031-5
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52 |
Jung Ok Shim, Hye Ran Yang, Jin Soo Moon, Ju Young Chang, Jae Sung Ko, Sung Sup Park, Jeong Kee Seo. Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for IdentifyingATP7BMutations and Phenotype Correlations in Children with Wilson Disease. Journal of Korean Medical Science 2018; 33(26) doi: 10.3346/jkms.2018.33.e177
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53 |
Harmut H-J Schmidt. Introducing Single-Nucleotide Polymorphism Markers in the Diagnosis of Wilson Disease. Clinical Chemistry 2007; 53(9): 1568 doi: 10.1373/clinchem.2007.093633
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54 |
Juan Geng, Jian Wang, Ru-En Yao, Xiao-Qing Liu, Qi-Hua Fu. Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease. World Journal of Pediatrics 2013; 9(2): 158 doi: 10.1007/s12519-012-0388-7
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