The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference4 articles.
1. A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies;Coto;Kidney Int,2004
2. Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells;Riancho;Nephrol Dial Transplant,2006
3. Gitelman's syndrome: towards genotype–phenotype correlations?;Riveira-Munoz;Pediatr Nephrol,2007
4. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter;Lin;Am J Kidney Dis,2004
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1. Novel Compound Heterozygous Mutations of the SLC12A3 Gene in Gitelman Syndrome with Growth Hormone Deficiency and Hypothyroidism;Iranian Journal of Pediatrics;2023-10-08
2. Spectrum of variants in a large Chinese Gitelman syndrome cohort;Clinical Genetics;2023-09-13
3. Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome;International Journal of General Medicine;2023-05
4. Gitelman syndrome – A new mutation in the SLC12A3 gene;Nefrología (English Edition);2022-07
5. Gitelman syndrome – A new mutation in the SLC12A3 gene;Nefrología;2021-05
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