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Journal Abstract Search
251 related items for PubMed ID: 10790207
1. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H. Hum Mutat; 2000; 15(5):454-62. PubMed ID: 10790207 [Abstract] [Full Text] [Related]
3. Molecular analysis and diagnosis in Japanese patients with Wilson's disease. Shimizu N, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T. Pediatr Int; 1999 Aug; 41(4):409-13. PubMed ID: 10453196 [Abstract] [Full Text] [Related]
5. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A. Mov Disord; 2006 Feb; 21(2):245-8. PubMed ID: 16211609 [Abstract] [Full Text] [Related]
6. [Genotype and phenotype correlation in Chinese patients with Wilson's Disease]. Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH. Zhonghua Er Ke Za Zhi; 2003 Jan; 41(1):35-8. PubMed ID: 14761325 [Abstract] [Full Text] [Related]
7. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients. Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Chandy M, Stanley M, Selvi S, Kurian G, Chandy GM. Indian J Gastroenterol; 2006 Jan; 25(6):277-82. PubMed ID: 17264425 [Abstract] [Full Text] [Related]
11. Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations. Wei Z, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M. Neuroreport; 2014 Oct 01; 25(14):1075-80. PubMed ID: 25089800 [Abstract] [Full Text] [Related]
15. Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. Wang LH, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM. J Hum Genet; 2011 Sep 01; 56(9):660-5. PubMed ID: 21796144 [Abstract] [Full Text] [Related]
16. [Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease]. Xia JK, Ning HF, Luo X, Zeng Y, Chen YB, Kong XD. Zhonghua Gan Zang Bing Za Zhi; 2024 Jun 20; 32(6):558-562. PubMed ID: 38964899 [Abstract] [Full Text] [Related]
17. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, Bao KR, Yu LH, Wang MX. World J Gastroenterol; 2004 Feb 15; 10(4):590-3. PubMed ID: 14966923 [Abstract] [Full Text] [Related]
18. Six novel ATP7B mutations in Thai patients with Wilson disease. Panichareon B, Taweechue K, Thongnoppakhun W, Aksornworanart M, Pithukpakorn M, Yenchitsomanus PT, Limwongse C, Limjindaporn T. Eur J Med Genet; 2011 Feb 15; 54(2):103-7. PubMed ID: 21034864 [Abstract] [Full Text] [Related]