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Article

Novel PKD1 mutations - the effect on clinical phenotype of ADPKD patients in Lower Silesia.

Postepy higieny i medycyny doswiadczalnej (Online) - 7 Mar 2013

Augustyniak-Bartosik Hanna, Krajewska Magdalena, Weyde Wacław, Madziarska Katarzyna, Rurek Michał, Klinger Marian

Abstract excerpt

INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development and progressive enlargement of cysts in the kidneys. The diagnosis of ADPKD is usually determined by criteria of renal ultrasound imaging of the development and number of cysts. However, in atypical cystic disease, for the recognition of ADPKD, DNA-based assays may be required. MATERIALS AND METHODS: In the...

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Identifiers

PMID: 23475492
DOI: 10.5604/17322693.1038358

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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