Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome

Journal of the American Society of Nephrology

Volumn 13, Issue 9, 2002, Pages 2259-2266

  Vargas Poussou, Rosa ^a   Huang, Chunfa ^a   Hulin, Philippe ^a   Houillier, Pascal ^a   Jeunemaître, Xavier ^a   Paillard, Michel ^a   Planelles, Gabrielle ^a   Déchaux, Michèle ^a   Miller, R Tyler ^a   Antignac, Corinne ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE; CELL SURFACE RECEPTOR; SODIUM CHLORIDE;

ADULT; ARTICLE; BARTTER SYNDROME; CALCIUM CELL LEVEL; CALCIUM HOMEOSTASIS; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; EXTRACELLULAR CALCIUM; GENE MUTATION; HENLE LOOP; HUMAN; HUMAN CELL; HYPERALDOSTERONISM; HYPOCALCEMIA; HYPOKALEMIA; INFANT; KIDNEY TUBULE ABSORPTION; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SODIUM ABSORPTION; CELL CULTURE; CYTOLOGY; DOMINANT GENE; GENE EXPRESSION; GENETICS; IN VITRO STUDY; KIDNEY; METABOLISM; MIDDLE AGED; NEWBORN; PHYSIOLOGY; SITE DIRECTED MUTAGENESIS;

BARTTER SYNDROME; CALCIUM; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; GENES, DOMINANT; HUMANS; HYPOCALCEMIA; INFANT, NEWBORN; KIDNEY; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; SODIUM CHLORIDE;

EID: 0036707879     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000025781.16723.68     Document Type: Article

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