SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia

被引：4
|
作者：
Meaney, C
Cranston, T
Lee, P
Genet, S
机构：
[1] Camelia Botnar Labs, N Thames E Reg Clin Mol Genet Lab, London WC1N 3NN, England
[2] Great Ormond St Hosp Sick Children, Metab Unit, London WC1N 3JH, England
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2001年 / 24卷 / 04期
关键词：
D O I：
10.1023/A:1010598109582
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
This study reports a novel mutation which may be prevalent in Indian patients with glycogen storage disease type Ia.
引用
收藏
页码：517 / 518
页数：2
相关论文
共 50 条
  • [41] GLUCOSE-6-PHOSPHATASE AND TYPE-1 GLYCOGEN-STORAGE-DISEASE - SOME CRITICAL CONSIDERATIONS
    ARION, WJ
    CANFIELD, WK
    EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 : S7 - S13
  • [42] GLYCOGEN-STORAGE DISEASE TYPE-I WITH NORMAL INVITRO ACTIVITY OF GLUCOSE-6-PHOSPHATASE
    STEGNER, H
    EVERT, W
    GAEDICKE, G
    MONATSSCHRIFT KINDERHEILKUNDE, 1980, 128 (06) : 432 - 434
  • [43] Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors
    Nakamura, T
    Ozawa, T
    Kawasaki, T
    Nakamura, H
    Sugimura, H
    JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2001, 16 (12) : 1402 - 1408
  • [44] ISOLATION OF THE GENE FOR MURINE GLUCOSE-6-PHOSPHATASE, THE ENZYME-DEFICIENT IN GLYCOGEN-STORAGE-DISEASE TYPE-1A
    SHELLY, LL
    LEI, KJ
    PAN, CJ
    SAKATA, SF
    RUPPERT, S
    SCHUTZ, G
    CHOU, JY
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1993, 268 (29) : 21482 - 21485
  • [45] IDENTIFICATION OF MUTATIONS IN THE GENE FOR GLUCOSE-6-PHOSPHATASE, THE ENZYME-DEFICIENT IN GLYCOGEN-STORAGE-DISEASE TYPE 1A
    LEI, KJ
    PAN, CJ
    SHELLY, LL
    LIU, JL
    CHOU, JY
    JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (05): : 1994 - 1999
  • [46] Nuclease-Free Glucose-6-Phosphatase-a Gene Integration Ameliorates Hypoglycemia in Glycogen Storage Disease Type Ia
    Cho, Jun-Ho
    Wilson, Lane H.
    Weinstein, David A.
    Eva, Alessandra
    Taylor, Rebecca
    Vora, Jenisha
    Gordo, Susana
    Liao, Jing
    Edwards, Matt
    Choudhury, Sourav R.
    Lee, Young Mok
    MOLECULAR THERAPY, 2020, 28 (04) : 301 - 302
  • [47] An evolutionary approach to optimizing glucose-6-phosphatase- enzymatic activity for gene therapy of glycogen storage disease type Ia
    Zhang, Lisa
    Cho, Jun-Ho
    Arnaoutova, Irina
    Mansfield, Brian C.
    Chou, Janice Y.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (03) : 470 - 479
  • [48] THE SCANNING OF COMMONLY SEEN MUTATIONS OF GLUCOSE-6-PHOSPHATASE AND GLUCOSE-6-PHOSPHATASE TRANSLOCASE GENES IN GLYCOGEN STORAGE TYPE 1A AND TYPE 1B DISEASE PATIENTS BY THE MICROELECTRONIC ARRAY TECHNOLOGY
    Eminoglu, F. T.
    Tumer, L.
    Ezgu, F. S.
    Okur, I
    Biberoglu, G.
    Hasanoglu, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S69 - S69
  • [49] Glucose-6-phosphatase (G6PC1) promoter polymorphism associated with glycogen storage disease type la among the Indian population
    Karthi, Sellamuthu
    Manimaran, Paramasivam
    Gandhimathi, Krishnan
    Ganesh, Ramasamy
    Varalakshmi, Perumal
    Ashokkumar, Balasubramaniem
    RSC ADVANCES, 2015, 5 (80): : 65297 - 65302
  • [50] LATENCY OF GLUCOSE-6-PHOSPHATASE (G-6-P) IN TYPE IB GLYCOGEN-STORAGE DISEASE (GSD)
    BIALEK, DS
    SHARP, HL
    KANE, WJ
    ELDERS, J
    NORDLIE, RC
    JOURNAL OF PEDIATRICS, 1977, 91 (05): : 838 - 838
12345