Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes

DNA Sequence - Journal of DNA Sequencing and Mapping

Volumn 18, Issue 5, 2007, Pages 395-399

  Fava, Cristiano ^a,b   Montagnana, Martina ^a,b   Rosberg, Lena ^a   Burri, Philippe ^a   Jönsson, Anders ^c   Wanby, Pär ^d   Wahrenberg, Hans ^e   Hulthén, U Lennart ^a   Aurell, Mattias ^f   Guidi, Gian Cesare ^b   Melander, Olle ^a  

^a MALMÖ UNIVERSITY   (Sweden)

^b UNIVERSITY OF VERONA   (Italy)

^c RYHOV COUNTY HOSPITAL   (Sweden)

^d KALMAR COUNTY HOSPITAL   (Sweden)

^e KAROLINSKA INSTITUTE   (Sweden)

^f UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Gitelman's syndrome; Hyperreninemic hyperaldosteronism; Mutations; NCCT; SLC12A3

Indexed keywords

ALANINE; ARGININE; ASPARTIC ACID; GLUTAMIC ACID; HISTIDINE; LEUCINE; LYSINE; METHIONINE; SERINE; SODIUM CHLORIDE COTRANSPORTER; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; DONOR SITE; EXON; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GITELMAN SYNDROME; HUMAN; INTRON; MISSENSE MUTATION; PRIORITY JOURNAL; SWEDEN;

AGE OF ONSET; EXONS; GENES, RECESSIVE; GENETIC SCREENING; GITELMAN SYNDROME; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; MODELS, GENETIC; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, DRUG; RNA SPLICE SITES; SWEDEN; SYMPORTERS; VARIATION (GENETICS);

EID: 34547211510     PISSN: 10425179     EISSN: 10292365     Source Type: Journal    
DOI: 10.1080/10425170701400456     Document Type: Article

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