Gene dosage changes in the GCK gene not detected by Sanger DNA sequencing in two patients with phenotypic MODY 2

被引:0
|
作者
Birkebaek, Niels H. [1 ]
Brusgaard, Klaus [2 ]
机构
[1] Aarhus Univ Hosp, Dept Pediat, Aarhus, Denmark
[2] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark
来源
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P1-319
引用
收藏
页码:288 / 289
页数:2
相关论文
共 50 条
  • [41] Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing
    Cao Yan-Yan
    Zhang Wen-Hui
    Qu Yu-Jin
    Bai Jin-Li
    Jin Yu-Wei
    Wang Hong
    Song Fang
    中华医学杂志(英文版), 2018, (24) : 2921 - 2929
  • [42] Demonstration of a polymorphism in the gene ERCC1 by two DNA sequencing methods
    Yu, JJ
    Reed, EL
    Mu, CJ
    BostickBruton, F
    Reed, E
    ONCOLOGY REPORTS, 1997, 4 (05) : 905 - 907
  • [43] Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis
    Seo, S. H.
    Ahn, H. S.
    Yu, Y. S.
    Kang, H. J.
    Park, K. D.
    Cho, S. I.
    Park, J. S.
    Hyun, Y. J.
    Kim, J. Y.
    Seong, M-W
    Park, S. S.
    CLINICAL GENETICS, 2013, 83 (05) : 494 - 496
  • [44] Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing
    Cao, Yan-Yan
    Zhang, Wen-Hui
    Qu, Yu-Jin
    Bai, Jin-Li
    Jin, Yu-Wei
    Wang, Hong
    Song, Fang
    CHINESE MEDICAL JOURNAL, 2018, 131 (24) : 2921 - +
  • [45] Phenotypic heterogeneity in patients with mutations in the IGHMBP2 gene
    Gomez-Garcia de la Banda, M.
    Felipe-Rucian, A.
    Gomez, D.
    Gratacos, M.
    Sanchez-Montanez, A.
    Gran, F.
    Bernal, S.
    Tizzano, E.
    Gamez, J.
    Munell, F.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S135 - S135
  • [46] Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers
    Sumati Gupta
    Samantha Greenberg
    Jade Grimmett
    David Gaston
    Neeraj Agarwal
    William Lowrance
    Joshua Schiffman
    Wendy Kohlmann
    Familial Cancer, 2017, 16 : 545 - 550
  • [47] Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers
    Gupta, Sumati
    Greenberg, Samantha
    Grimmett, Jade
    Gaston, David
    Agarwal, Neeraj
    Lowrance, William
    Schiffman, Joshua
    Kohlmann, Wendy
    FAMILIAL CANCER, 2017, 16 (04) : 545 - 550
  • [48] SCREENING OF BETA-GLOBIN GENE (HBB) FOR RARE MUTATIONS IN BETA-THALASSEMIA PATIENTS USING SANGER SEQUENCING
    Ahmed, Zeeshan
    Nasir, Asghar
    Moatter, Tariq
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2019, 41 : 5 - 5
  • [50] Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation
    Bertini, E
    Donati, MA
    Broda, P
    Cassandrini, D
    Petrini, S
    Dionisi-Vici, C
    Ballerini, L
    Boldrini, R
    D'Amico, A
    Pasquini, E
    Minetti, C
    Santorelli, FM
    Bruno, C
    NEUROPEDIATRICS, 2005, 36 (05) : 309 - 313