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Article

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

BMC medical genetics - 17 Aug 2009

Stekrova Jitka, Reiterova Jana, Svobodova Stanislava, Kebrdlova Vera, Lnenicka Petr, Merta Miroslav, Viklicky Ondrej, Kohoutova Milada

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. The disease is caused by mutations of the PKD1 (affecting roughly 85% of ADPKD patients) and PKD2 (affecting roughly 14% of ADPKD patients) genes, although in several ADPKD families, the...

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Source

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Identifiers

PMID: 19686598
DOI: 10.1186/1471-2350-10-78
PMCID: PMC2736583

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19686598-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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