A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome

被引:0
|
作者
Masahiko Tsuda
Emiko Kitasawa
Hiroyuki Ida
Yoshikatsu Eto
Misao Owada
机构
[1] Department of Paediatrics,
[2] Nihon University School of Medicine,undefined
[3] Chiyoda,undefined
[4] Tokyo,undefined
[5] 101-8309 Japan,undefined
[6] Department of Paediatrics,undefined
[7] Jikei University School of Medicine,undefined
[8] Tokyo,undefined
[9] Japan,undefined
来源
关键词
Missense Mutation; GLUT2 Gene;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:867 / 867
相关论文
共 50 条
  • [21] Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family
    Abbasi, Farzaneh
    Azizi, Faezeh
    Javaheri, Mona
    Mosallanejad, Asieh
    Ebrahim-Habibi, Azadeh
    Ghafouri-Fard, Soudeh
    GENE, 2015, 557 (01) : 103 - 105
  • [23] Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
    Kehar, Mohit
    Bijarnia, Sunita
    Ellard, Sian
    Houghton, Jayne
    Saxena, Renu
    Verma, I. C.
    Wadhwa, Nishant
    INDIAN JOURNAL OF PEDIATRICS, 2014, 81 (11): : 1237 - 1239
  • [24] A Novel Deletion Mutation in the GLUT 2 Gene in a Patient with Fanconi Bickel Syndrome
    Noorian, Shahab
    Aghamahdi, Fatemeh
    Rad, Samira Saee
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 200 - 200
  • [25] Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
    Mohit Kehar
    Sunita Bijarnia
    Sian Ellard
    Jayne Houghton
    Renu Saxena
    I. C. Verma
    Nishant Wadhwa
    The Indian Journal of Pediatrics, 2014, 81 : 1237 - 1239
  • [26] Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
    Mohit Kehar
    Sunita Bijarnia
    Sian Ellard
    Jayne Houghton
    Renu Saxena
    I. C. Verma
    Nishant Wadhwa
    The Indian Journal of Pediatrics, 2016, 83 : 1362 - 1362
  • [27] Fanconi–Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene
    Arun Gopalakrishnan
    Manish Kumar
    Sriram Krishnamurthy
    Osamu Sakamoto
    Sadagopan Srinivasan
    Clinical and Experimental Nephrology, 2011, 15 : 745 - 748
  • [28] Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi–Bickel syndrome: revisited gene atlas for renumbering
    Mohammad Al-Haggar
    Osamu Sakamoto
    Ali Shaltout
    Amani Al-Hawari
    Yahya Wahba
    Dina Abdel-Hadi
    Clinical and Experimental Nephrology, 2012, 16 : 604 - 610
  • [29] An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation
    Dayal, Devi
    Dekate, Parag
    Sharda, Sheetal
    Das, Ashim
    Attri, Savita
    JOURNAL OF PEDIATRIC GENETICS, 2013, 2 (02) : 109 - 112
  • [30] Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene
    Celikboya, Ezgi
    Cansever, Mehmet Serif
    Zubarioglu, Tanyel
    Yesil, Gozde
    Akinci, Nurver
    HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI, 2019, 57 (03): : 328 - 331