Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

European Journal of Human Genetics

Volumn 20, Issue 3, 2012, Pages 263-270

  Glaudemans, Bob ^a,b   Yntema, Helger G ^a   San Cristobal, Pedro ^a   Schoots, Jeroen ^a   Pfundt, Rolph ^a   Kamsteeg, Erik J ^a   Bindels, René J ^a   Knoers, Nine V A M ^a   Hoenderop, Joost G ^a   Hoefsloot, Lies H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Gitelman syndrome; mutation analysis; NCC; SLC12A3; Xenopus laevis oocyte expression

Indexed keywords

SODIUM CHLORIDE; SODIUM CHLORIDE COTRANSPORTER;

ARTICLE; CELL MEMBRANE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GITELMAN SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; XENOPUS LAEVIS;

AMINO ACID SEQUENCE; ANIMALS; CELL MEMBRANE; COHORT STUDIES; FEMALE; GENE DELETION; GENE EXPRESSION; GITELMAN SYNDROME; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; OOCYTES; RECEPTORS, DRUG; SEQUENCE ALIGNMENT; SYMPORTERS; XENOPUS LAEVIS;

XENOPUS LAEVIS;

EID: 84857190665     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.189     Document Type: Article

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