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Article

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

BMC medical genetics - 22 Dec 2015

Obeidova Lena, Seeman Tomas, Elisakova Veronika, Reiterova Jana, Puchmajerova Alena, Stekrova Jitka

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is an early-onset form of polycystic kidney disease that often leads to devastating outcomes for patients. ARPKD is caused by mutations in the PKHD1 gene, an extensive gene that encodes for the ciliary protein fibrocystin/polyductin. Next-generation sequencing is presently the best option for molecular diagnosis of ARPKD. Our aim was to set up the...

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Identifiers

PMID: 26695994
DOI: 10.1186/s12881-015-0261-3
PMCID: PMC4689053

Genes

PKHD1

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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