Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A)

被引:0
|
作者
Christen, Matthias [1 ]
Reineking, Wencke [2 ]
Beineke, Andreas [2 ]
Jagannathan, Vidhya [1 ]
Baumgaertner, Wolfgang [2 ]
Leeb, Tosso [1 ]
机构
[1] Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland
[2] Univ Vet Med, Dept Pathol, D-30559 Hannover, Germany
关键词
D O I
10.1111/age.13146
中图分类号
S8 [畜牧、 动物医学、狩猎、蚕、蜂];
学科分类号
0905 ;
摘要
[No abstract available]
引用
收藏
页码:900 / 902
页数:3
相关论文
共 50 条
  • [31] Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia
    Terzioglu, M
    Emre, S
    Özen, H
    Saltik, IN
    Koçak, N
    Ciliv, G
    Yüce, A
    Gürakan, F
    JOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (08) : 881 - 882
  • [32] Novel mutation (G188R) in the G6Pase gene of a patient with glycogen storage disease type 1a
    Trioche, P
    Labrune, P
    Odievre, M
    Hedchouel, M
    Deleuze, JF
    HUMAN MUTATION, 1998, : S323 - S324
  • [33] METABOLIC STUDIES IN A CHILD WITH TYPE-1 GLYCOGEN-STORAGE DISEASE (GSD-1) AND PARTIAL DEFICIENCY OF HEPATIC GLUCOSE-6-PHOSPHATASE
    NUKI, G
    PARKER, J
    JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY, 1979, 17 (06): : 431 - 432
  • [34] Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia
    Zhang, Lisa
    Lee, Cheol
    Arnaoutova, Irina
    Anduaga, Javier
    Starost, Matthew F.
    Mansfield, Brian C.
    Chou, Janice Y.
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2020, 527 (03) : 824 - 830
  • [35] Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b
    Lam, Ching-Wan
    Yan, Matthew Shu-Ching
    Law, Tat-Yin
    Tong, Sui-Fan
    Orrico, A.
    Galli, L.
    Sorrentino, V.
    Benedetti, A.
    CLINICA CHIMICA ACTA, 2006, 374 (1-2) : 147 - 148
  • [36] Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia
    Stroppiano, M
    Regis, S
    DiRocco, M
    Caroli, F
    Gandullia, P
    Gatti, R
    JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (01) : 43 - 49
  • [37] Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia
    Chiang, SC
    Lee, YM
    Chang, MH
    Wang, TR
    Ko, TM
    Hwu, WL
    JOURNAL OF HUMAN GENETICS, 2000, 45 (04) : 197 - 199
  • [38] Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia
    S.-C. Chiang
    Y.-M. Lee
    M.-H. Chang
    T.-R. Wang
    T.-M. Ko
    W.-L. Hwu
    Journal of Human Genetics, 2000, 45 : 197 - 199
  • [39] A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia
    Goto, M
    Taki, T
    Sugie, H
    Miki, Y
    Kato, H
    Hayashi, Y
    JOURNAL OF INHERITED METABOLIC DISEASE, 2000, 23 (08) : 851 - 852
  • [40] Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia
    Takahashi, K
    Akanuma, J
    Matsubara, Y
    Fujii, K
    Kure, S
    Suzuki, Y
    Wataya, K
    Sakamoto, O
    Aoki, Y
    Ogasawara, M
    Ohura, T
    Miyabayashi, S
    Narisawa, K
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (02): : 90 - 94