Ontology highlight
ABSTRACT:
SUBMITTER: Carrera P
PROVIDER: S-EPMC4976333 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Carrera Paola P Calzavara Silvia S Magistroni Riccardo R den Dunnen Johan T JT Rigo Francesca F Stenirri Stefania S Testa Francesca F Messa Piergiorgio P Cerutti Roberta R Scolari Francesco F Izzi Claudia C Edefonti Alberto A Negrisolo Susanna S Benetti Elisa E Alibrandi Maria Teresa Sciarrone MT Manunta Paolo P Boletta Alessandra A Ferrari Maurizio M
Scientific reports 20160808
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease. We analysed PKD1 and PKD2, in a large cohort of 440 unrelated Italian patients with ADPKD and 203 relatives by direct sequencing and MLPA. Molecular and detailed phenotypic data have been collected and submitted to the PKD1/PKD2 LOVD database. This is the first large retrospective study in Italian patients, describing 701 variants, 249 (35.5%) already associated with ADPKD and 452 (64.5%) novel. Ac ...[more]