A. Simoudis

Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort

Background and Objectives: The genetic architecture of late-onset autosomal dominant polycystic kidney disease (ADPKD) remains incompletely defined. Pathogenic mutations in two genes that encode polycystin proteins, PKD1 and PKD2, prevail among these patients. Detection of PKD1 alterations by a sequencing method is cha...