Browsing by Subject "GENETIC INVESTIGATION"
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Master Thesis Open Access
The genetic basis of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in two Cypriot Families and the development of a robust PKD1 and PKD2 mutation screening test using amplicon-based Next-Generation Sequencing (NGS)
(Πανεπιστήμιο Κύπρου, Σχολή Θετικών και Εφαρμοσμένων Επιστημών / University of Cyprus, Faculty of Pure and Applied Sciences, 2021-06-11)Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary kidney diseases, with a frequency of 1 in 1000 people in the general population. This progressive disorder is mainly caused by ...