Mutations spectrum of ATP7B gene and two possible modifier genes in a Russian patients with Wilson Disease

被引：0
|
作者：
Balashova, M. S. [1 ]
Solov'eva, O. V. [1 ]
Tuluzanovskaya, I. G. [1 ]
Filimonov, M. I. [1 ]
Zhuchenko, N. A. [1 ]
Glotov, O. S. [2 ,3 ,4 ]
Glotov, A. S. [2 ,3 ]
Fedyakov, M. A. [4 ]
Gorbunova, A. V. [3 ]
Polyakova, I. V. [3 ,4 ]
Apalko, S. V. [3 ,4 ]
Ignatova, T. M. [1 ]
Asanov, A. U. [1 ]
机构：
[1] Sechenov First Moscow State Med Univ, Moscow, Russia
[2] FSBSI Res Inst Obstet Gynecol & Reproductol, St Petersburg, Russia
[3] St Petersburg State Univ, St Petersburg, Russia
[4] City Hosp 40, St Petersburg, Russia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P03.37
引用
收藏
页码：867 / 868
页数：2
相关论文
共 50 条
  • [41] Microarray technology -: A new approach for detection of mutations in ATP7B gene in patients with Wilson disease
    Gojova, L.
    Jansova, E.
    Kulm, M.
    Vrabelova, S.
    Kozak, L.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 130 - 130
  • [42] Regional distribution of mutations of the ATP7B gene in patients with Wilson disease:: impact on genetic testing
    Ferenci, Peter
    [J]. HUMAN GENETICS, 2006, 120 (02) : 151 - 159
  • [43] Analysis of Wilson disease mutations in copper binding domain of ATP7B gene
    Gul, Bushra
    Firasat, Sabika
    Tehreem, Raeesa
    Shan, Tayyaba
    Afshan, Kiran
    [J]. PLOS ONE, 2022, 17 (06):
  • [44] Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease
    Aabha Nagral
    Snehal Mallakmir
    Nikita Garg
    Kritika Tiwari
    Suzena Masih
    Nishtha Nagral
    Ojas Unavane
    Ajay Jhaveri
    Shubha Phadke
    GaneshPrasad ArunKumar
    Rakesh Aggarwal
    [J]. Indian Journal of Pediatrics, 2023, 90 : 240 - 248
  • [45] Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease
    Nagral, Aabha
    Mallakmir, Snehal
    Garg, Nikita
    Tiwari, Kritika
    Masih, Suzena
    Nagral, Nishtha
    Unavane, Ojas
    Jhaveri, Ajay
    Phadke, Shubha
    ArunKumar, GaneshPrasad
    Aggarwal, Rakesh
    [J]. INDIAN JOURNAL OF PEDIATRICS, 2023, 90 (03): : 240 - 248
  • [46] Neurological manifestations and ATP7B mutations in Wilson's disease
    Costa Machado, Alexandre Aluizio
    Deguti, Marta Mitiko
    Genschel, Janine
    Rachid Cancado, Eduardo Luiz
    Bochow, Bettina
    Schmidt, Hartmut
    Barbosa, Egberto Reis
    [J]. PARKINSONISM & RELATED DISORDERS, 2008, 14 (03) : 246 - 249
  • [47] SCREENING OF ATP7B GENE MUTATIONS IN TURKISH PATIENTS WITH WILSON DISEASE BY CUSTOM DESIGNED RESEQUENCING MICROARRAYS
    Yilmaz, A.
    Guzel, A.
    Dundar, H.
    Dursun, A.
    Uslu, N.
    Yuce, A.
    Ozgul, R. K.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S160 - S160
  • [48] Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease
    Dastsooz, Hassan
    Imanieh, Mohammad Hadi
    Dehghani, Seyed Mohsen
    Haghighat, Mahmood
    Moini, Maryam
    Fardaei, Majid
    [J]. HEPATITIS MONTHLY, 2013, 13 (05)
  • [49] GENETIC VARIATION SPECTRUM OF ATP7B IN A COHORT OF 113 PATIENTS WITH WILSON DISEASE
    Freixo, Joao Parente
    Lopes, Ana
    Bastos-Ferreira, Rita
    Silva, Ermelinda Santos
    Antunes, Henedina
    Sequeiros, Jorge
    Magalhaes, Marina
    Oliveira, Jorge
    [J]. MEDICINE, 2022, 101 (30)
  • [50] Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations
    Papur, Ozlenen Simsek
    Akman, Sezin Asik
    Cakmur, Raif
    Terzioglu, Orhan
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2013, 56 (04) : 175 - 179
12345