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
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 08期
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
  • [21] Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]
    Witsch-Baumgartner, Martina
    Sawyer, Hilary
    Haas, Dorothea
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (08) : 891 - 891
  • [22] Clinical utility gene card for: Deletion 22q13 syndrome
    Phelan, Katy
    Betancur, Catalina
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (04) : 492 - 492
  • [23] Clinical utility gene card for: 3-M syndrome - Update 2013
    Holder-Espinasse, Muriel
    Irving, Melita
    Cormier-Daire, Valerie
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (04) : e1 - e4
  • [24] Clinical utility gene card for McArdle disease
    Taylor, Rhonda L.
    Davis, Mark
    Turner, Emma
    Brull, Astrid
    Pinos, Tomas
    Cabrera, Macarena
    Nowak, Kristen J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (05) : 758 - 764
  • [25] Clinical utility gene card for: Oculocutaneous albinism
    Gronskov, Karen
    Brondum-Nielsen, Karen
    Lorenz, Birgit
    Preising, Markus N.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (08) : 1054 - 1054
  • [26] Clinical utility gene card for: malignant hyperthermia
    Rosenberg, Henry
    Rueffert, Henrik
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (06) : 732 - 732
  • [27] Clinical utility gene card: for pseudoxanthoma elasticum
    Legrand, Anne
    Benistan, Karelle
    Mazzella, Jean Michael
    Adham, Salma
    Frank, Michael
    Jeunemaitre, Xavier
    Albuisson, Juliette
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (06) : 919 - 924
  • [28] Clinical utility gene card for: Dyskeratosis congenita
    Dokal, Inderjeet
    Vulliamy, Tom
    Mason, Philip
    Bessler, Monica
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (11) : 3 - 4
  • [29] Clinical utility gene card for: poikiloderma with neutropenia
    Larizza, Lidia
    Negri, Gloria
    Colombo, Elisa Adele
    Volpi, Ludovica
    Sznajer, Yves
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (10) : 1185 - 1185
  • [30] Clinical utility gene card for: Menkes disease
    Tuemer, Zeynep
    Klomp, Leo
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (10) : 1108 - 1110
12345