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

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

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

Affiliation

Syrén ML; Department of Pediatrics and Neonatology, University of Milan, Italy.

Hum Mutat ; 20(1): 78, 2002 Jul.

Article in En | MEDLINE | ID: mdl-12112667

Subject(s)

Alkalosis/genetics; Carrier Proteins/genetics; Hypokalemia/genetics; Receptors, Drug; Symporters; Alkalosis/blood; Alkalosis/urine; Calcium/urine; DNA/chemistry; DNA/genetics; Humans; Hypokalemia/blood; Hypokalemia/urine; Italy; Magnesium/blood; Mutation; Mutation, Missense; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA; Sequence Deletion; Sodium Chloride Symporters; Solute Carrier Family 12, Member 3; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Drug / Carrier Proteins / Symporters / Alkalosis / Hypokalemia Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2002 Type: Article Affiliation country: Italy

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