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
  • [31] Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer
    Hernan, I.
    Mane, B.
    Borras, E.
    Dias, M. de Sousa
    Llort, G.
    Yaguee, C.
    Gamundi, M. J.
    Arcusa, A.
    Carballo, M.
    CLINICAL & TRANSLATIONAL ONCOLOGY, 2015, 17 (07): : 576 - 580
  • [32] Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer
    I. Hernan
    B. Mañé
    E. Borràs
    M. de Sousa Dias
    G. Llort
    C. Yagüe
    M. J. Gamundi
    À. Arcusa
    M. Carballo
    Clinical and Translational Oncology, 2015, 17 : 576 - 580
  • [33] Validation of a new strategy for the identification of SARS-CoV-2 variants by sequencing the spike gene by Sanger
    Murillo, Enderson
    Palacio-Rua, Katherine
    Afanador-Ayala, Carlos
    Garcia-Correa, Juan Felipe
    Zuluaga, Andres F.
    ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA, 2023, 41 (05): : 284 - 289
  • [34] Counterregulatory responses to hypoglycemia in patients with glucokinase gene mutations (MODY2).
    Guenat, E
    Philippe, J
    Jéquier, E
    Tappy, L
    DIABETOLOGIA, 1999, 42 : A163 - A163
  • [35] Normal NFKB2 gene by sanger sequencing in a patient with hypogammaglobulinaemia, alopecia and central adrenal insufficiency
    Tadros, S.
    Martini, H.
    Verma, N.
    Karafotias, I
    Sundaram, K.
    Gross-Kreul, D.
    Gooi, H.
    Adhya, Z.
    Ibrahim, M.
    ALLERGY, 2019, 74 : 518 - 518
  • [36] Two novel PAH gene mutations detected in Italian phenylketonuric patients
    Alessandra Argiolas
    Paolo Bosco
    Francesco Calì
    Nadia Ceratto
    Guido Anello
    Enrica Riva
    Giacomo Biasucci
    Carla Carducci
    V. Romano
    Human Genetics, 1997, 99 : 275 - 278
  • [37] Two novel PAH gene mutations detected in Italian phenylketonuric patients
    Argiolas, A
    Bosco, P
    Cali, F
    Ceratto, N
    Anello, G
    Riva, E
    Biasucci, G
    Carducci, C
    Romano, V
    HUMAN GENETICS, 1997, 99 (02) : 275 - 278
  • [38] Whole gene deletion mutation of HNF1B and exonic aberration mutations of GCK and HNF1B in patients with MODY in Japan
    Takizawa, Miho
    Iwasaki, Naoko
    Yamamoto, Toshiyuki
    Uchigata, Yasuko
    Iwamoto, Yasuhiko
    DIABETOLOGY INTERNATIONAL, 2012, 3 (04) : 224 - 232
  • [39] Whole gene deletion mutation of HNF1B and exonic aberration mutations of GCK and HNF1B in patients with MODY in Japan
    Miho Takizawa
    Naoko Iwasaki
    Toshiyuki Yamamoto
    Yasuko Uchigata
    Yasuhiko Iwamoto
    Diabetology International, 2012, 3 (4) : 224 - 232
  • [40] Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
    Nishiguchi, Koji M.
    Tearle, Richard G.
    Liu, Yangfan P.
    Ohd, Edwin C.
    Miyake, Noriko
    Benaglio, Paola
    Harper, Shyana
    Koskiniemi-Kuendig, Hanna
    Venturini, Giulia
    Sharon, Dror
    Koenekoop, Robert K.
    Nakamura, Makoto
    Kondo, Mineo
    Ueno, Shinji
    Yasuma, Tetsuhiro R.
    Beckmann, Jacques S.
    Ikegawa, Shiro
    Matsumoto, Naomichi
    Terasaki, Hiroko
    Berson, Eliot L.
    Katsanis, Nicholas
    Rivolta, Carlo
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (40) : 16139 - 16144