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Article

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

Journal of molecular medicine (Berlin, Germany) - 1 Aug 2005

Peltola Paula, Lumiaho Anne, Miettinen Raija, Pihlajamäki Jussi, Sandford Richard, Laakso Markku

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, leading to renal insufficiency and renal transplantation. Mutation screening in the major gene for ADPKD, the polycystic kidney disease type 1 (PKD1) gene, has often been incomplete because of multiple homologous copies of this gene elsewhere on chromosome 16. Furthermore, there are only a few studies investigating...

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Identifiers

PMID: 15772804
DOI: 10.1007/s00109-005-0644-6

Genes

PKD1
PKD2

Variants

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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