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Aug 7, 2008 (publication date) through Apr 19, 2024
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World Journal of Gastroenterology
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1007-9327
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
| For: | Santhosh S, Shaji R, Eapen C, Jayanthi V, Malathi S, Finny P, Thomas N, Chandy M, Kurian G, Chandy G. Genotype phenotype correlation in Wilson’s disease within families-a report on four south Indian families. World J Gastroenterol 2008; 14(29): 4672-4676 [PMID: 18698682 DOI: 10.3748/wjg.14.4672] |
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| URL: | https://www.wjgnet.com/1007-9327/full/v14/i29/4672.htm |
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Yves Denoyer, France Woimant, Muriel Bost, Gilles Edan, Sophie Drapier. Neurological Wilson's disease lethal for the son, asymptomatic in the father. Movement Disorders 2013; 28(3): 402 doi: 10.1002/mds.25290
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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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Cellular copper levels determine the phenotype of the Arg
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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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Ashish Bavdekar, Arnab Gupta, Kunal Ray. Clinical and Translational Perspectives on WILSON DISEASE. 2019; : 335 doi: 10.1016/B978-0-12-810532-0.00032-X
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Valentina Medici, Dorothy A. Kieffer. Clinical and Translational Perspectives on WILSON DISEASE. 2019; : 153 doi: 10.1016/B978-0-12-810532-0.00015-X
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Zhiling Qian, Xiongwei Cui, Yunli Huang, Yanmin Liu, Ning Li, Sujun Zheng, Jun Jiang, Shichang Cui. Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease. Molecular Genetics & Genomic Medicine 2019; 7(5) doi: 10.1002/mgg3.649
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Grzegorz Chabik, Tomasz Litwin, Anna Członkowska. Concordance rates of Wilson's disease phenotype among siblings. Journal of Inherited Metabolic Disease 2014; 37(1): 131 doi: 10.1007/s10545-013-9625-z
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Hong-Wen Zhu, Zhong-Bin Tao, Gang Su, Qiao-Ying Jin, Liang-Tao Zhao, Jia-Rui Zhu, Jun Yan, Tian-Yu Yu, Jie-Xian Ding, Yu-Min Li. Identification of two novel mutations in the ATP7B gene that cause Wilson’s disease. World Journal of Pediatrics 2017; 13(4): 387 doi: 10.1007/s12519-017-0055-0
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Arnab Gupta, Santanu Das, Kunal Ray. A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways. Metallomics 2018; 10(3): 378 doi: 10.1039/C7MT00314E
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Dorothy A. Kieffer, Valentina Medici. Wilson disease: At the crossroads between genetics and epigenetics—A review of the evidence. Liver Research 2017; 1(2): 121 doi: 10.1016/j.livres.2017.08.003
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Hanul Park, Dong Kyu Park, Min Seung Kim, Jung Han Yoon. Pseudo-dominant inheritance in Wilson’s disease. Neurological Sciences 2016; 37(1): 153 doi: 10.1007/s10072-015-2394-8
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S. Suresh Kumar, George Kurian, C. E. Eapen, Eve A. Roberts. Genetics of Wilson’s disease: a clinical perspective. Indian Journal of Gastroenterology 2012; 31(6): 285 doi: 10.1007/s12664-012-0237-6
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