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Journal Abstract Search

222 related items for PubMed ID: 17876883

  • 21. Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
    Lepori MB, Zappu A, Incollu S, Dessì V, Mameli E, Demelia L, Nurchi AM, Gheorghe L, Maggiore G, Sciveres M, Leuzzi V, Indolfi G, Bonafé L, Casali C, Angeli P, Barone P, Cao A, Loudianos G.
    Mol Cell Probes; 2012 Aug; 26(4):147-50. PubMed ID: 22484412
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  • 23. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
    Wu ZY, Zhao GX, Chen WJ, Wang N, Wan B, Lin MT, Murong SX, Yu L.
    J Mol Med (Berl); 2006 May; 84(5):438-42. PubMed ID: 16649058
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  • 25. Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
    El-Mougy FA, Sharaf SA, Elsharkawy MM, Mandour IA, El-Essawy RA, Eldin AM, Helmy HM, Soliman DH, Selim LH, Sharafeldin HM, Mogahed EA, El-Karaksy HM.
    Arab J Gastroenterol; 2014 May; 15(3-4):114-8. PubMed ID: 25465132
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  • 27. Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
    Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Finny P, Thomas N, Chandy M, Kurian G, Chandy GM.
    World J Gastroenterol; 2008 Aug 07; 14(29):4672-6. PubMed ID: 18698682
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  • 29. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
    Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH.
    Hum Mutat; 2004 Apr 07; 23(4):398. PubMed ID: 15024742
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  • 30. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
    Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, Naginiene R, Schmidt H, Kupcinskas L.
    World J Gastroenterol; 2008 Oct 14; 14(38):5876-9. PubMed ID: 18855987
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  • 31. Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
    Mukherjee S, Dutta S, Majumdar S, Biswas T, Jaiswal P, Sengupta M, Bhattacharya A, Gangopadhyay PK, Bavdekar A, Das SK, Ray K.
    Parkinsonism Relat Disord; 2014 Jan 14; 20(1):75-81. PubMed ID: 24094725
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  • 32. Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
    Li K, Zhang WM, Lin S, Wen L, Wang ZF, Xie D, Wei M, Qiu ZQ, Dai Y, Lin MC, Kung HF, Yao FX.
    J Hum Genet; 2013 Feb 14; 58(2):67-72. PubMed ID: 23235335
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  • 34. Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
    Aggarwal A, Chandhok G, Todorov T, Parekh S, Tilve S, Zibert A, Bhatt M, Schmidt HH.
    Ann Hum Genet; 2013 Jul 14; 77(4):299-307. PubMed ID: 23551039
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  • 35. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
    Wu ZY, Wang N, Lin MT, Fang L, Murong SX, Yu L.
    Arch Neurol; 2001 Jun 14; 58(6):971-6. PubMed ID: 11405812
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  • 37. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR.
    Xu P, Liang X, Jankovic J, Le W.
    Arch Neurol; 2001 Nov 14; 58(11):1879-82. PubMed ID: 11708998
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  • 38. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
    Vrabelova S, Letocha O, Borsky M, Kozak L.
    Mol Genet Metab; 2005 Nov 14; 86(1-2):277-85. PubMed ID: 15967699
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