The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe [6]

Kidney International

Volumn 72, Issue 7, 2007, Pages 898-

  Bouwer, S T ^a   Coto, E ^b   Santos, F ^b   Angelicheva, D ^a   Chandler, D ^c   Kalaydjieva, L ^a,d  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EUROPE; EXON; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GIPSY; GITELMAN SYNDROME; HOMOZYGOTE; HUMAN; LETTER; POLYMERASE CHAIN REACTION; POPULATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING;

EUROPE; FOUNDER EFFECT; GITELMAN SYNDROME; GYPSIES; HUMANS; MUTATION; RECEPTORS, DRUG; SYMPORTERS;

EID: 34648816905     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5002504     Document Type: Letter

References (4)

1. Coto E, Rodriguez J, Jeck N et al. A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int 2004; 65: 25-29.
2. Riancho JA, Saro G, Sanudo C et al. Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells. Nephrol Dial Transplant 2006; 21: 217-220.
3. Riveira-Munoz E, Chang Q, Bindels R, Devuyst O. Gitelman's syndrome: towards genotype-phenotype correlations? Pediatr Nephrol 2007; 22: 326-332.
4. Lin SH, Cheng NL, Hsu YJ, Halperin ML. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Am J Kidney Dis 2004; 43: 304-312.