A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

Pediatric Nephrology

Volumn 20, Issue 7, 2005, Pages 891-896

  Rodríguez Soriano, Juan ^a   Vallo, Alfredo ^a   Pérez de Nanclares, Gustavo ^a   Bilbao, José Ramón ^a   Castaño, Luis ^a  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

Bartter syndrome; Chloride channel; Founder mutation; Hypokalemia; Spain

Indexed keywords

ALANINE; CHLORIDE CHANNEL; MEMBRANE PROTEIN; SODIUM CHLORIDE; THREONINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BARTTER SYNDROME; CHILD; CHROMOSOME; CLCNKB GENE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; FOUNDER EFFECT; GENE; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SPAIN;

ADOLESCENT; ALANINE; AMINO ACID SUBSTITUTION; ANION TRANSPORT PROTEINS; BARTTER SYNDROME; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; MEMBRANE PROTEINS; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; SPAIN; THREONINE;

EID: 21344446137     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-005-1867-z     Document Type: Article

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