Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

Pediatric Nephrology

Volumn 10, Issue 4, 1996, Pages 403-407

  Lemmink, Henny H ^a   Van Den Heuvel, Lambert P W J ^a   Van Dijk, Henk A ^a   Merkx, Gerard F M ^a   Smilde, Tineke J ^a   Taschner, Peter E M ^b   Monnens, Leo A H ^a   Hebert, Steve C ^c   Knoers, Nine V A M ^a,d  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^b LEIDEN UNIVERSITY   (Netherlands)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autosomal recessive Gitelman syndrome; Linkage analysis; Mutation analysis; Thiazide sensitive sodium chloride cotransporter

Indexed keywords

CARRIER PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 16Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA RECOMBINATION; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GITELMAN SYNDROME; HUMAN; HUMAN CELL; HYPOKALEMIA; HYPOMAGNESEMIA; KIDNEY DISEASE; KIDNEY DISTAL TUBULE; KIDNEY TUBULE FUNCTION; MALE; PRIORITY JOURNAL;

BENZOTHIADIAZINES; CARRIER PROTEINS; DIURETICS; DNA PROBES; HAPLOTYPES; HUMANS; HYPOKALEMIA; KIDNEY TUBULES; LINKAGE (GENETICS); LOD SCORE; MAGNESIUM; MUTATION; NETHERLANDS; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; POLYMERASE CHAIN REACTION; SODIUM CHLORIDE SYMPORTER INHIBITORS; SODIUM CHLORIDE SYMPORTERS; SYMPORTERS; SYNDROME;

EID: 0029764485     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050129     Document Type: Article

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