Clinical utility gene card for: Gitelman syndrome

被引:3
|
作者
Knoers, Nine V. A. M. [1 ]
Devuyst, Olivier [2 ]
Kamsteeg, Erik-Jan [3 ]
机构
[1] Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands
[2] Catholic Univ Louvain, Sch Med, Div Nephrol, B-1200 Brussels, Belgium
[3] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
关键词
NACL COTRANSPORTER GENE; BLOOD-PRESSURE; MUTATIONS; VARIANTS;
D O I
10.1038/ejhg.2011.14
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:932 / 3
页数:3
相关论文
共 50 条
  • [1] Clinical utility gene card for: Gitelman syndrome
    Nine VAM Knoers
    Olivier Devuyst
    Erik-Jan Kamsteeg
    European Journal of Human Genetics, 2011, 19 : 1 - 3
  • [2] Clinical utility gene card for: WAGR syndrome
    Clericuzio, Carol
    Hingorani, Melanie
    Crolla, John A.
    van Heyningen, Veronica
    Verloes, Alain
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (04) : 492 - 492
  • [3] Clinical utility gene card for: Wolfram syndrome
    Moosajee, Mariya
    Yu-Wai-Man, Patrick
    Rouzier, Cecile
    Bitner-Glindzicz, Maria
    Bowman, Richard
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (11) : 1 - 4
  • [4] Clinical utility gene card for: Angelman Syndrome
    Buiting, Karin
    Clayton-Smith, Jill
    Driscoll, Daniel J.
    Gillessen-Kaesbach, Gabriele
    Kanber, Deniz
    Schwinger, Eberhard
    Williams, Charles
    Horsthemke, Bernhard
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (02) : e1 - e3
  • [5] Clinical utility gene card for: Angelman Syndrome
    Karin Buiting
    Jill Clayton-Smith
    Daniel J Driscoll
    Gabriele Gillessen-Kaesbach
    Deniz Kanber
    Eberhard Schwinger
    Charles Williams
    Bernhard Horsthemke
    European Journal of Human Genetics, 2015, 23 : 3 - 3
  • [6] Clinical utility gene card for: Gorlin syndrome
    Lorenzo Lo Muzio
    Lorenza Pastorino
    Sonja Levanat
    Vesna Musani
    Mima Situm
    Giovanna Bianchi Scarra
    European Journal of Human Genetics, 2011, 19 : 3 - 3
  • [7] Clinical utility gene card for: Werner syndrome
    Hisama, Fuki M.
    Kubisch, Christian
    Martin, George M.
    Oshima, Junko
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (05) : 1 - 3
  • [8] Clinical utility gene card for: Cantu syndrome
    Kirk, Edwin P.
    Scurr, Ingrid
    van Haaften, Gijs
    van Haelst, Mieke M.
    Nichols, Colin G.
    Williams, Maggie
    Smithson, Sarah F.
    Grange, Dorothy K.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (04) : e1 - e4
  • [9] Clinical utility gene card for: Alstrom syndrome
    Marshall, Jan D.
    Maffei, Pietro
    Beck, Sebastian
    Barrett, Timothy G.
    Paisey, Richard B.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (10) : 1108 - 1111
  • [10] Clinical utility gene card for: Vici Syndrome
    Thomas Cullup
    Carlo Dionisi-Vici
    Ay L Kho
    Shu Yau
    Shehla Mohammed
    Mathias Gautel
    Heinz Jungbluth
    European Journal of Human Genetics, 2014, 22 : 435 - 435