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
  • [41] Clinical utility gene card for: dilated cardiomyopathy (CMD)
    Posafalvi, Anna
    Herkert, Johanna C.
    Sinke, Richard J.
    van den Berg, Maarten P.
    Mogensen, Jens
    Jongbloed, Jan D. H.
    van Tintelen, J. Peter
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (10) : 1185 - 1185
  • [42] Clinical utility gene card for: Diamond Blackfan anemia
    Vlachos, Adrianna
    Dahl, Niklas
    Dianzani, Irma
    Lipton, Jeffrey M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (05) : 615b - 615
  • [43] Clinical utility gene card for: Abetalipoproteinaemia - Update 2014
    Burnett, John R.
    Bell, Damon A.
    Hooper, Amanda J.
    Hegele, Robert A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (06) : e1 - e3
  • [44] Clinical utility gene card for: familial polycythaemia vera
    Hussein, Kais
    Granot, Galit
    Shpilberg, Ofer
    Kreipe, Hans
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (06) : 4 - 4
  • [45] Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy
    Jeru, Isabelle
    Vatier, Camille
    Araujo-Vilar, David
    Vigouroux, Corinne
    Lascols, Olivier
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (11) : 4 - 4
  • [46] Clinical utility gene card for: Long-QT syndrome (types 1-13)
    Beckmann, Britt-Maria
    Wilde, Arthur A. M.
    Kaeaeb, Stefan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (10) : 1185 - 1185
  • [47] Clinical utility gene card for: Dyskeratosis congenita - update 2015
    Dokal, Inderjeet
    Vulliamy, Tom
    Mason, Philip
    Bessler, Monica
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (04) : 558 - 558
  • [48] Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome
    Zhang, Lingxia
    Huang, Ke
    Wang, Shugang
    Fu, Haidong
    Wang, Jingjing
    Shen, Huijun
    Lu, Zhihong
    Chen, Junyi
    Bao, Yu
    Feng, Chunyue
    Dong, Guanping
    Mao, Jianhua
    FRONTIERS IN PEDIATRICS, 2021, 9
  • [49] Clinical utility gene card for: Nemaline myopathy - update 2015
    Nowak, Kristen J.
    Davis, Mark R.
    Wallgren-Pettersson, Carina
    Lamont, Phillipa J.
    Laing, Nigel G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (11) : 4 - 5
  • [50] Clinical utility gene card for: proximal spinal muscular atrophy
    Rudnik-Schoeneborn, Sabine
    Eggermann, Thomas
    Kress, Wolfram
    Lemmink, Henny H.
    Cobben, Jan-Maarten
    Zerres, Klaus
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (06) : 713 - 713