Article
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
Genetic testing and molecular biomarkers - 1 Nov 2015
Athanasiou Yiannis, Voskarides Konstantinos, Chatzikyriakidou Anthi, Ignatiou Anastasia, Demosthenous Panayiota, Elia Avraam, Zavros Michalis, Georgiou Ioannis, Pierides Alkis, Deltas Constantinos
Abstract excerpt
BACKGROUND AND AIMS: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In the present study, we studied for the first time, genetically and clinically, all the cystinuric families identified so far in the Greek-Cypriot population. METHODS: Discovery of mutations was...
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