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Journal Abstract Search

468 related items for PubMed ID: 23333878

  • 1. Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
    Simsek Papur O, Akman SA, Cakmur R, Terzioglu O.
    Eur J Med Genet; 2013 Apr; 56(4):175-9. PubMed ID: 23333878
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  • 2. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.
    Turk J Gastroenterol; 2015 Sep; 26(5):397-403. PubMed ID: 26215059
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  • 3. Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
    Guggilla SR, Senagari JR, Rao PN, Madireddi S.
    Gene; 2015 Sep 10; 569(1):83-7. PubMed ID: 25982861
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  • 4. A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
    Dastsooz H, Dehghani SM, Imanieh MH, Haghighat M, Moini M, Fardaei M.
    Gene; 2013 Feb 01; 514(1):48-53. PubMed ID: 23159873
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  • 7. 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 01; 15(3-4):114-8. PubMed ID: 25465132
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  • 8. New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
    Davies LP, Macintyre G, Cox DW.
    Genet Test; 2008 Mar 01; 12(1):139-45. PubMed ID: 18373411
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  • 9. Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
    Geng J, Wang J, Yao RE, Liu XQ, Fu QH.
    World J Pediatr; 2013 May 01; 9(2):158-62. PubMed ID: 23275100
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  • 11. 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 May 01; 54(2):103-7. PubMed ID: 21034864
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  • 12. 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 01; 23(4):398. PubMed ID: 15024742
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  • 15. [Molecular analysis of Wilson disease].
    Vrábelová S, Vánová P, Kopecková L, Trunecka P, Smolka V, Procházková D, Vejvalková S, Suláková A, Kupcová V, Bzdúch V, Kozák L.
    Cas Lek Cesk; 2002 Oct 11; 141(20):642-5. PubMed ID: 12515040
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  • 16. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
    Gu YH, Kodama H, Du SL, Gu QJ, Sun HJ, Ushijima H.
    Clin Genet; 2003 Dec 11; 64(6):479-84. PubMed ID: 14986826
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