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Journal Abstract Search

206 related items for PubMed ID: 33879678

  • 1. Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.
    Wang J, Tang L, Xu A, Zhang S, Jiang H, Pei P, Li H, Lv T, Yang Y, Qian N, Naidu K, Yang W.
    Medicine (Baltimore); 2021 Apr 23; 100(16):e25463. PubMed ID: 33879678
    [Abstract] [Full Text] [Related]

  • 2. Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.
    Xiao H, Deng S, Deng X, Gu S, Yang Z, Yin H, Deng H.
    Digestion; 2019 Apr 23; 99(4):319-326. PubMed ID: 30384382
    [Abstract] [Full Text] [Related]

  • 3. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.
    Turk J Gastroenterol; 2015 Sep 23; 26(5):397-403. PubMed ID: 26215059
    [Abstract] [Full Text] [Related]

  • 4. 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 Sep 23; 54(2):103-7. PubMed ID: 21034864
    [Abstract] [Full Text] [Related]

  • 5. Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.
    Chen YC, Yu H, Wang RM, Xie JJ, Ni W, Zhang Y, Dong Y, Wu ZY.
    Parkinsonism Relat Disord; 2019 May 23; 62():128-133. PubMed ID: 30655162
    [Abstract] [Full Text] [Related]

  • 6. 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]

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  • 8. A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.
    Woimant F, Poujois A, Bloch A, Jordi T, Laplanche JL, Morel H, Collet C.
    Mol Genet Genomic Med; 2020 Oct 15; 8(10):e1428. PubMed ID: 32770663
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  • 10. New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
    Lu CX, Qing Lin, Huang WQ, Tzeng CM.
    Eur J Med Genet; 2014 Sep 15; 57(9):498-502. PubMed ID: 24878384
    [Abstract] [Full Text] [Related]

  • 11. A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing.
    Liu WL, Li F, Liu L, Chen W, He ZX, Gu H, Ai R.
    Mol Med Rep; 2020 Jan 15; 21(1):517-523. PubMed ID: 31746411
    [Abstract] [Full Text] [Related]

  • 12. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
    Li M, Ma J, Wang W, Yang X, Luo K.
    BMC Gastroenterol; 2021 Sep 01; 21(1):339. PubMed ID: 34470610
    [Abstract] [Full Text] [Related]

  • 13. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
    Yuan ZF, Wu W, Yu YL, Shen J, Mao SS, Gao F, Xia ZZ.
    World J Pediatr; 2015 Aug 01; 11(3):255-60. PubMed ID: 26253413
    [Abstract] [Full Text] [Related]

  • 14. Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
    Jia S, Li X, Zhang W, Zhang B, Wu Z, Duan W, Ou X, Zhou D, Huang J.
    J Clin Lab Anal; 2022 Nov 01; 36(11):e24735. PubMed ID: 36253962
    [Abstract] [Full Text] [Related]

  • 15. Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
    Kumari N, Kumar A, Thapa BR, Modi M, Pal A, Prasad R.
    Hum Mutat; 2018 Dec 01; 39(12):1926-1941. PubMed ID: 30120852
    [Abstract] [Full Text] [Related]

  • 16. Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
    Li X, Lu Z, Lin Y, Lu X, Xu Y, Cheng J, Shao Y, Su X, Liu Z, Sheng H, Cai Y, Li T, Zhou Z, Tan J, Liu H, Huang Y, Liu L, Zeng C.
    Am J Med Genet A; 2019 Aug 01; 179(8):1451-1458. PubMed ID: 31172689
    [Abstract] [Full Text] [Related]

  • 17. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.
    Balashova MS, Tuluzanovskaya IG, Glotov OS, Glotov AS, Barbitoff YA, Fedyakov MA, Alaverdian DA, Ivashchenko TE, Romanova OV, Sarana AM, Scherbak SG, Baranov VS, Filimonov MI, Skalny AV, Zhuchenko NA, Ignatova TM, Asanov AY.
    J Trace Elem Med Biol; 2020 May 01; 59():126420. PubMed ID: 31708252
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
    Tuan Pham LA, Nguyen TT, Nga Le HB, Tran DQ, Ho CT, Tran TH, Ta VT, Bui TH, Tran VK.
    J Genet; 2017 Dec 01; 96(6):933-939. PubMed ID: 29321352
    [Abstract] [Full Text] [Related]

  • 20. A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.
    Kahraman CY, Islek A, Tatar A, Özdemir Ö, Mardinglu A, Turkez H.
    Medicina (Kaunas); 2021 Jan 29; 57(2):. PubMed ID: 33573009
    [Abstract] [Full Text] [Related]

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