Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Human mutation

Volumn 20, Issue 1, 2002, Pages 78-

  Syrén, Marie Louise ^a   Tedeschi, Silvana ^a   Cesareo, Laila ^a   Bellantuono, Rosa ^a   Colussi, Giacomo ^a   Procaccio, Mirella ^a   Alì, Anna ^a   Domenici, Raffaele ^a   Malberti, Fabio ^a   Sprocati, Monica ^a   Sacco, Michele ^a   Miglietti, Nunzia ^a   Edefonti, Alberto ^a   Sereni, Fabio ^a   Casari, Giorgio ^a   Coviello, Domenico A ^a   Bettinelli, Alberto ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CARRIER PROTEIN; COTRANSPORTER; DNA; DRUG RECEPTOR; MAGNESIUM; SLC12A3 PROTEIN, HUMAN; SODIUM CHLORIDE COTRANSPORTER; THIAZIDE RECEPTOR;

ALKALOSIS; ARTICLE; BLOOD; CHEMISTRY; DNA SEQUENCE; GENE DELETION; GENETICS; HUMAN; HYPOKALEMIA; ITALY; MISSENSE MUTATION; MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME; URINE;

ALKALOSIS; CALCIUM; CARRIER PROTEINS; DNA; HUMANS; HYPOKALEMIA; ITALY; MAGNESIUM; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, DRUG; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SODIUM CHLORIDE SYMPORTERS; SYMPORTERS; SYNDROME;

MLCS; MLOWN;

EID: 18144453861     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9045     Document Type: Article

References (0)