Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Liver Diseases and ATP7B[original query] |
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| Association between inherited monogenic liver disorders and chronic hepatitis C. World journal of hepatology 2014 Feb 6 (2): 92-7. Piekuse Linda, Kreile Madara, Zarina Agnese, Steinberga Zane, Sondore Valentina, Keiss Jazeps, Lace Baiba, Krumina Astri |
| Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers. Epigenetics & chromatin 2019 02 12 (1): 10. Mordaunt Charles E, Kieffer Dorothy A, Shibata Noreene M, Cz?onkowska Anna, Litwin Tomasz, Weiss Karl-Heinz, Zhu Yihui, Bowlus Christopher L, Sarkar Souvik, Cooper Stewart, Wan Yu-Jui Yvonne, Ali Mohamed R, LaSalle Janine M, Medici Valenti |
| [Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 4 39 (4): 357-361. Liu Pan, Che Fengyu, Shu Chang, Li Yarong, Liu Xiaogu |
| Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease. Hepatology communications 2022 3 6 (7): 1611-1619. Panzer Marlene, Viveiros André, Schaefer Benedikt, Baumgartner Nadja, Seppi Klaus, Djamshidian Atbin, Todorov Theodor, Griffiths William J H, Schott Eckart, Schuelke Markus, Eurich Dennis, Stättermayer Albert Friedrich, Bomford Adrian, Foskett Pierre, Vodopiutz Julia, Stauber Rudolf, Pertler Elke, Morell Bernhard, Tilg Herbert, Müller Thomas, Kiechl Stefan, Jimenez-Heredia Raul, Weiss Karl Heinz, Hahn Si Houn, Janecke Andreas, Ferenci Peter, Zoller Hei |
| Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series. Liver international : official journal of the International Association for the Study of the Liver 2022 2 42 (4): 864-870. Pelusi Serena, Ronzoni Luisa, Malvestiti Francesco, Bianco Cristiana, Marini Ilaria, D'Ambrosio Roberta, Giannotta Juri Alessandro, Soardo Giorgio, Maggioni Marco, Prati Daniele, Valenti Lu |
| Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China. Journal of clinical laboratory analysis 2022 Oct e24735. Jia Siyu, Li Xiaojin, Zhang Wei, Zhang Bei, Wu Zhen, Duan Weijia, Ou Xiaojuan, Zhou Donghu, Huang Ji |
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