Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Nature Genetics

Volumn 12, Issue 1, 1996, Pages 24-30

  Simon, David B ^a,b   Nelson Williams, Carol ^a,b   Bia, Margaret Johnson ^b   Ellison, David ^b   Karet, Fiona E ^a,b   Molina, Antonio Morey ^c   Vaara, Ivar ^d   Iwata, Fujihiko ^e   Cushner, Howard M ^f   Koolen, Marianne ^g   Gainza, Francisco J ^h   Gitelman, Hillel J ⁱ   Lifton, Richard P ^a,b  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^d Regional Hospital of Växjö   (Sweden)

^e NIHON UNIVERSITY   (Japan)

^f MADIGAN ARMY MEDICAL CENTER   (United States)

^g JEROEN BOSCH HOSPITAL   (Netherlands)

^h HOSPITAL DE CRUCES   (Spain)

ⁱ UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THIAZIDE DIURETIC AGENT;

ARTICLE; BARTTER SYNDROME; CHLORIDE TRANSPORT; CLINICAL ARTICLE; DISEASE CLASSIFICATION; ELECTROLYTE BALANCE; FEMALE; FLUID BALANCE; GENE LOCUS; GENE MUTATION; HUMAN; HYPERTENSION; HYPOCALCIURIA; HYPOKALEMIC ALKALOSIS; HYPOMAGNESEMIA; MALE; PRIORITY JOURNAL; SODIUM TRANSPORT;

AMINO ACID SEQUENCE; ANIMALS; BARTTER SYNDROME; BASE SEQUENCE; BIOLOGICAL TRANSPORT; CARRIER PROTEINS; CHLORIDES; CHROMOSOMES, HUMAN, PAIR 16; CLONING, MOLECULAR; DINUCLEOTIDE REPEATS; DNA PRIMERS; FEMALE; FLOUNDER; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RATS; RECEPTORS, DRUG; SEQUENCE ALIGNMENT; SODIUM; SODIUM CHLORIDE SYMPORTERS; SYMPORTERS;

EID: 9044235777     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0196-24     Document Type: Article

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