A novel heterozygous duplication of the gene in two Gitelman syndrome pedigrees: indicating a founder effect.
Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.
Jun 22, 2019
Author information: Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus. firstname.lastname@example.org. Abstract Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the gene. A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe salt-wasting tubulopathy […]