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Article

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific reports - 8 Aug 2016

Carrera Paola, Calzavara Silvia, Magistroni Riccardo, den Dunnen Johan T, Rigo Francesca, Stenirri Stefania, Testa Francesca, Messa Piergiorgio, Cerutti Roberta, Scolari Francesco, Izzi Claudia, Edefonti Alberto, Negrisolo Susanna, Benetti Elisa, Alibrandi Maria Teresa Sciarrone, Manunta Paolo, Boletta Alessandra, Ferrari Maurizio

Abstract excerpt

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,...

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Identifiers

PMID: 27499327
DOI: 10.1038/srep30850
PMCID: PMC4976333

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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