Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12

Human Genetics

Volumn 129, Issue 4, 2011, Pages 397-405

  Muhammad, Emad ^a   Leventhal, Neta ^a,b   Parvari, Galit ^c   Hanukoglu, Aaron ^d,e   Hanukoglu, Israel ^f   Chalifa Caspi, Vered ^a   Feinstein, Yael ^a,b   Weinbrand, Jenny ^a,b   Jacoby, Harel ^a,b   Manor, Esther ^a,b   Nagar, Tal ^a   Beck, John C ^g   Sheffield, Val C ^g   Hershkovitz, Eli ^a,b   Parvari, Ruti ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d WOLFSON MEDICAL CENTER   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

^f ARIEL UNIVERSITY   (Israel)

^g UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CARBON DIOXIDE; CARBONATE DEHYDRATASE XII; ELECTROLYTE; HYDROCORTISONE; PROTON; SODIUM CHLORIDE;

ADRENAL HYPERPLASIA; ALDOSTERONE BLOOD LEVEL; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; CASE REPORT; CATALYSIS; CORTICOSTEROID THERAPY; DEHYDRATION; DISEASE SEVERITY; ELECTROLYTE BLOOD LEVEL; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FAILURE TO THRIVE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HOMEOSTASIS; HUMAN; HYPERKALEMIA; HYPONATREMIA; INFANT; MALE; MICROSATELLITE MARKER; PLASMA RENIN ACTIVITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SALT WASTING; SODIUM BALANCE; SODIUM EXCRETION; SWEAT; SWEAT GLAND; SWEAT TEST; URINARY EXCRETION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CARBONIC ANHYDRASES; CATALYTIC DOMAIN; CHLORIDES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; HYPONATREMIA; INFANT; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID; SWEAT;

EID: 79953820888     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0930-4     Document Type: Article

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