Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families

Pediatric Nephrology

Volumn 21, Issue 5, 2006, Pages 643-648

  García Nieto, Víctor ^a   Flores, Carlos ^a,b   Luis Yanes, Maria I ^a   Gallego, Eduardo ^a   Villar, Jesús ^a   Claverie Martín, Félix ^a  

^a HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

Bartter syndrome; Barttin; Hypokalaemia; Sensorineural deafness

Indexed keywords

ACETAZOLAMIDE; ALDOSTERONE; BARTTIN PROTEIN; BICARBONATE; CALCIUM; CHLORIDE; CREATININE; DESMOPRESSIN; GENE PRODUCT; MAGNESIUM; POTASSIUM; PROTEIN BSND; RENIN; SODIUM; SODIUM CHLORIDE; UNCLASSIFIED DRUG; URIC ACID;

ARTICLE; BARTTER SYNDROME; BASOLATERAL MEMBRANE; BETA CHAIN; CHILD; CHROMOSOME 1P; CLINICAL ARTICLE; CONTROLLED STUDY; DIURESIS; DNA SEQUENCE; EXON; FEMALE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC CODE; HENLE LOOP; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INNER EAR; KIDNEY TUBULE DISORDER; MALE; MISSENSE MUTATION; PARENT; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SPAIN; STRIA VASCULARIS;

ADOLESCENT; ADULT; BARTTER SYNDROME; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DEAFNESS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SPAIN;

EID: 33646137786     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0062-1     Document Type: Article

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