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Article

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

BMC medical genetics - 3 Apr 2014

Obeidova Lena, Elisakova Veronika, Stekrova Jitka, Reiterova Jana, Merta Miroslav, Tesar Vladimir, Losan Frantisek, Kohoutova Milada

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2. High structural and sequence complexity of PKD genes makes the mutational diagnostics of ADPKD challenging. The present study is the first detailed analysis of both PKD genes in a cohort of Czech patients with ADPKD using High Resolution...

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Source

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Identifiers

PMID: 24694054
DOI: 10.1186/1471-2350-15-41
PMCID: PMC3992149

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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