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Article

Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.

International urology and nephrology - 1 Dec 2012

Neumann Hartmut P H, Bacher Janina, Nabulsi Zinaida, Ortiz Brüchle Nadine, Hoffmann Michael M, Schaeffner Elke, Nürnberger Jens, Cybulla Markus, Wilpert Jochen, Riegler Peter, Corradini Robert, Kraemer-Guth Annette, Azurmendi Pablo, Nunez Mercedes, Gläsker Sven, Zerres Klaus, Jilg Cordula

Abstract excerpt

BACKGROUND: ADPKD is one of the most common inherited disorders, with high risk for end-stage renal disease. Numerous patients, however, have no relatives in whom this disorder is known and are unsure whether they may transmit the disease to their offsprings. The aim of this study was to evaluate...

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Identifiers

PMID: 22367170
DOI: 10.1007/s11255-012-0125-0

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22367170-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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