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Journal Abstract Search

133 related items for PubMed ID: 22145502

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  • 2. [Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
    Luo KZ, Yang X, Tong DJ, He G, Yi LX.
    Zhonghua Gan Zang Bing Za Zhi; 2006 Dec; 14(12):920-3. PubMed ID: 17196137
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  • 4. Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.
    Tasmeen R, Karim ASMB, Banu LA, Hossain E, Rokunuzzaman M, Majumder W, Alam ST, Rasid R, Benzamin M, Hasan MS.
    Indian J Gastroenterol; 2022 Oct; 41(5):456-464. PubMed ID: 36308701
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  • 5. 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 Oct; 54(2):103-7. PubMed ID: 21034864
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  • 6. 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; 23(4):398. PubMed ID: 15024742
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  • 7. [Study on relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM syndrome type in Chinese patients with Wilson disease].
    Yang B, Hu JY, Hong MF.
    Zhongguo Zhong Xi Yi Jie He Za Zhi; 2002 Apr; 22(4):280-2. PubMed ID: 12584791
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  • 8. 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
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  • 13. 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 Feb 15; 15(3-4):114-8. PubMed ID: 25465132
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  • 18. Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
    Gu S, Yang H, Qi Y, Deng X, Zhang L, Guo Y, Huang Q, Li J, Shi X, Song Z, Deng H.
    PLoS One; 2013 Feb 15; 8(7):e66526. PubMed ID: 23843956
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  • 19. From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia.
    Krumina A, Keiss J, Sondore V, Chernushenko A, Cernevska G, Zarina A, Micule I, Piekuse L, Kreile M, Lace B, Krumina Z, Rozentale B.
    Genetika; 2008 Oct 15; 44(10):1379-84. PubMed ID: 19062534
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  • 20. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
    Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.
    Am J Hum Genet; 1997 Aug 15; 61(2):317-28. PubMed ID: 9311736
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