Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome

Pediatric Research

Volumn 58, Issue 6, 2005, Pages 1269-1273

  Bettinelli, Alberto ^a   Borsa, Nicolò ^b   Syrén, Marie Louise ^c   Mattiello, Camilla ^b   Coviello, Domenico ^b   Edefonti, Alberto ^b   Giani, Marisa ^b   Travi, Maurizio ^b   Tedeschi, Silvana ^b  

^a A MANZONI HOSPITAL   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; ENALAPRIL; GENOMIC DNA; INDOMETACIN; POTASSIUM CHLORIDE; RECOMBINANT GROWTH HORMONE; SODIUM CHLORIDE; THIAZIDE DIURETIC AGENT; ANION TRANSPORT PROTEIN; CLCNKB PROTEIN, HUMAN; COTRANSPORTER; DRUG RECEPTOR; MEMBRANE PROTEIN; SLC12A3 PROTEIN, HUMAN;

ARTICLE; BARTTER SYNDROME; CASE REPORT; CHILD; CLCNKB GENE; DNA SEQUENCE; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HUMAN; HUMAN TISSUE; HYPOKALEMIC ALKALOSIS; KIDNEY BIOPSY; KIDNEY TUBULE; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEINURIA; SIBLING; SLC12A3 GENE; ADULT; GENETICS; KIDNEY; MUTATION; PATHOLOGY;

ADULT; ANION TRANSPORT PROTEINS; BARTTER SYNDROME; CHILD; CHLORIDE CHANNELS; FEMALE; HUMANS; KIDNEY; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; RECEPTORS, DRUG; SIBLINGS; SYMPORTERS;

EID: 33644815292     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.pdr.0000185267.95466.41     Document Type: Article

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