Mutation analysis of MeCP2 gene in 36 patients with Rett syndrome of Slavic origin: Detection of two novel mutations and one new polymorphism

被引：0
|
作者：
Rosipal, R
Zeman, J
Hadac, J
Misovicova, N
Martasek, P
机构：
[1] Charles Univ, Fac Med 1, Dept Pediat, Ctr Integrated Genom, CR-11636 Prague 1, Czech Republic
[2] Thomayer Univ Hosp, Dept Child Neurol, Prague, Czech Republic
[3] Martin Univ Hosp, Dept Clin Genet, Martin, Slovakia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10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：
引用
收藏
页码：230 / 230
页数：1
相关论文
共 50 条
  • [1] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome:: novel mutations and polymorphisms
    Zahorakova, Daniela
    Rosipal, Robert
    Hadac, Jan
    Zumrova, Alena
    Bzduch, Vladimir
    Misovicova, Nadezda
    Baxova, Alice
    Zeman, Jiri
    Martasek, Pavel
    [J]. JOURNAL OF HUMAN GENETICS, 2007, 52 (04) : 342 - 348
  • [2] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
    Daniela Zahorakova
    Robert Rosipal
    Jan Hadac
    Alena Zumrova
    Vladimir Bzduch
    Nadezda Misovicova
    Alice Baxova
    Jiri Zeman
    Pavel Martasek
    [J]. Journal of Human Genetics, 2007, 52 : 342 - 348
  • [3] Two novel mutations in the MECP2 gene in patients with Rett syndrome
    Alashti, Shayan Khalili
    Fallahi, Jafar
    Mohammadi, Sanaz
    Dehghanian, Fatemeh
    Farbood, Zahra
    Masoudi, Marjan
    Poorang, Shiva
    Jokar, Arezoo
    Fardaei, Majid
    [J]. GENE, 2020, 732
  • [4] Mutation analysis of the MECP2 gene in patients with Rett syndrome
    Zahorakova, D
    Rosipal, R
    Zeman, J
    Martasek, P
    [J]. FASEB JOURNAL, 2006, 20 (04): : A70 - A70
  • [5] Mutation analysis of the MECP2 gene in patients with Rett syndrome
    Conforti, FL
    Mazzei, R
    Magariello, A
    Patitucci, A
    Gabriele, AL
    Muglia, M
    Quattrone, A
    Fiumara, A
    Barone, R
    Pavone, L
    Barone, R
    Nisticò, R
    Mangone, L
    Quattrone, A
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 117A (02): : 184 - 187
  • [6] MECP2 gene mutation analysis in Chinese patients with Rett syndrome
    Hong Pan
    Yan-Ping Wang
    Xing-Hua Bao
    Hong-Di Meng
    Yan Zhang
    Xi-Ru Wu
    Yan Shen
    [J]. European Journal of Human Genetics, 2002, 10 : 484 - 486
  • [7] MECP2 gene mutation analysis in Chinese patients with Rett syndrome
    Pan, H
    Wang, YP
    Bao, XH
    Meng, HD
    Zhang, Y
    Wu, XR
    Shen, Y
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (08) : 484 - 486
  • [8] Mutations of the MECP2 gene in Rett syndrome
    Hampson, K
    Latif, F
    Woods, CG
    Webb, T
    [J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 : S73 - S73
  • [9] The detection of hot spot mutations in exon three of MECP2 gene in Rett syndrom patients of Slavic origin.
    Rosipal, R
    Hadac, J
    Zeman, J
    Misovicova, N
    Nevsimalova, S
    Martasek, P
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 602 - 602
  • [10] Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation
    Fendri-Kriaa, Nourhene
    Mkaouar-Rebai, Emna
    Moalla, Dorsaf
    Belguith, Neila
    Louhichi, Nacim
    Zemni, Ramzi
    Slama, Foued
    Triki, Chahnez
    Fakhfakh, Faiza
    [J]. JOURNAL OF CHILD NEUROLOGY, 2010, 25 (08) : 1042 - 1046
12345