CLINICAL AND MOLECULAR CHARACTERIZATION OF WILSON'S DISEASE IN MOLDOVA: IDENTIFICATION OF 3 NOVEL MUTATIONS

被引:0
|
作者
Mocanu, N. [1 ]
Sirocova, N. [1 ]
Scvortova, E. [1 ]
Todorov, T. [2 ]
Zibert, A. [2 ]
Schmidt, H. [2 ]
Sacara, V. [1 ]
机构
[1] Natl Ctr Reprod Hlth & Med Genet, Kishinev, Moldova
[2] Univ Klinikum, Klin & Poliklin Transplantat Med, Munster, Germany
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:556 / 556
页数:1
相关论文
共 50 条
  • [31] Further characterization of Wilson disease in Taiwan: identification of two novel mutations and high correlation between haplotype and mutation.
    Wu, JY
    Tsai, FJ
    Lee, CC
    Chang, JG
    Tsai, CH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A432 - A432
  • [32] Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
    Loudianos, G
    Dessi, V
    Lovicu, M
    Angius, A
    Altuntas, B
    Giacchino, R
    Marazzi, M
    Marcellini, M
    Sartorelli, MR
    Sturniolo, GC
    Kocak, N
    Yuce, A
    Akar, N
    Pirastu, M
    Cao, A
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (11) : 833 - 836
  • [33] Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations
    Wei, Zhisheng
    Huang, Yeqing
    Liu, Aiqun
    Diao, Shengpeng
    Yu, Qingyun
    Peng, Zhongxing
    Hong, Mingfan
    NEUROREPORT, 2014, 25 (14) : 1075 - 1080
  • [34] Clinical Molecular Diagnosis of Wilson Disease
    Bennett, James
    Hahn, Si Houn
    SEMINARS IN LIVER DISEASE, 2011, 31 (03) : 233 - 238
  • [35] Identification and characterization of a novel splice-site mutation in the Wilson disease gene
    Diao, Sheng-Peng
    Hong, Ming-Fan
    Huang, Ye-Qing
    Wei, Zhi-Sheng
    Su, Quan-Xi
    Peng, Zhong-Xing
    Yu, Qing-Yun
    Liu, Ai-Qun
    Chen, Jin
    Hu, Li
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 345 (1-2) : 154 - 158
  • [36] THE CLINICAL PRESENTATION AND CHARACTERIZATION OF WILSON DISEASE
    O'Mara, Ashley
    Malkus, Betsy
    Sankoh, Serap
    Allen, Jack
    Cataldo, Jason
    HEPATOLOGY, 2023, 78 : S1509 - S1509
  • [37] Analyses of genetic mutations in Wilson's disease
    Büttner, CA
    Lochs, H
    Schmidt, HHJ
    ZEITSCHRIFT FUR GASTROENTEROLOGIE, 2001, 39 (01): : 135 - 136
  • [38] Wilson's disease: Molecular basis, clinical manifestations, and rational treatment
    Beuers, U
    Gasser, T
    MEDIZINISCHE WELT, 1998, 49 (03): : 89 - 93
  • [39] Clinical presentation and mutations in Danish patients with Wilson disease
    Lisbeth Birk Møller
    Nina Horn
    Tina Dysgaard Jeppesen
    John Vissing
    Flemming Wibrand
    Poul Jennum
    Peter Ott
    European Journal of Human Genetics, 2011, 19 : 935 - 941
  • [40] Clinical presentation and mutations in Danish patients with Wilson disease
    Moller, Lisbeth Birk
    Horn, Nina
    Jeppesen, Tina Dysgaard
    Vissing, John
    Wibrand, Flemming
    Jennum, Poul
    Ott, Peter
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (09) : 935 - 941