A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age

Hormone Research

Volumn 65, Issue 2, 2006, Pages 62-68

  Gorgojo, Juan José ^a   Donnay, Sergio ^a   Jeck, Nikola ^b   Konrad, Martin ^b,c  

^a HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Bartter syndrome; CLCNKB mutation; Hypokalaemia; Late onset Bartter syndrome

Indexed keywords

CHLORIDE CHANNEL; INDOMETACIN; PARATHYROID HORMONE; POTASSIUM CHLORIDE; PROSTAGLANDIN SYNTHASE INHIBITOR; PROTEIN CLCNKB; ROFECOXIB; SODIUM CHLORIDE; UNCLASSIFIED DRUG;

ADULT; ADULTHOOD; ARTICLE; BARTTER SYNDROME; BIOCHEMISTRY; CALCIUM BLOOD LEVEL; CASE REPORT; CORRELATION ANALYSIS; DRUG DOSE REDUCTION; EVALUATION; FEMALE; FOUNDER EFFECT; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GITELMAN SYNDROME; GROUPS BY AGE; GROWTH CURVE; HEREDITY; HORMONE BLOOD LEVEL; HUMAN; HYPOKALEMIA; INTELLIGENCE QUOTIENT; KIDNEY CALCIFICATION; MENTAL DISEASE; MISSENSE MUTATION; OVARY FUNCTION; OVARY INSUFFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PUBERTY; SHORT STATURE; SPAIN;

ADULT; BARTTER SYNDROME; CHLORIDE CHANNELS; FEMALE; FOUNDER EFFECT; HUMANS; POINT MUTATION; SPAIN;

EID: 33344465590     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000090601     Document Type: Article

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