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Article

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Human mutation - 1 May 2004

Bergmann Carsten, Senderek Jan, Küpper Fabian, Schneider Frank, Dornia Christian, Windelen Ellen, Eggermann Thomas, Rudnik-Schöneborn Sabine, Kirfel Jutta, Furu Laszlo, Onuchic Luiz F, Rossetti Sandro, Harris Peter C, Somlo Stefan, Guay-Woodford Lisa, Germino Gregory G, Moser Markus, Büttner Reinhard, Zerres Klaus

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality. The clinical spectrum is widely variable. About 30 to 50% of affected individuals die in the neonatal period, while others survive into adulthood. ARPKD is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, which is among the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15108277
DOI: 10.1002/humu.20029

Genes

PKHD1

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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