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Article

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

BMC medical genetics - 23 Jan 2006

Vouk Katja, Strmecki Lana, Stekrova Jitka, Reiterova Jana, Bidovec Matjaz, Hudler Petra, Kenig Anton, Jereb Simona, Zupanic-Pajnic Irena, Balazic Joze, Haarpaintner Guido, Leskovar Bostjan, Adamlje Anton, Skoflic Antun, Dovc Reina, Hojs Radovan, Komel Radovan

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of sufficient number of family members are available, it is worthwhile to assign the gene involved in disease progression by the genetic linkage analysis. METHODS: We collected samples from 36 Slovene...

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Identifiers

PMID: 16430766
DOI: 10.1186/1471-2350-7-6
PMCID: PMC1434729

Genes

PKD2
PKD1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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