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Article

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Journal of the American Society of Nephrology : JASN - 1 Jan 2003

Bergmann Carsten, Senderek Jan, Sedlacek Beate, Pegiazoglou Ioannis, Puglia Patricia, Eggermann Thomas, Rudnik-Schöneborn Sabine, Furu Laszlo, Onuchic Luiz F, De Baca Monica, Germino Gregory G, Guay-Woodford Lisa, Somlo Stefan, Moser Markus, Büttner Reinhard, Zerres Klaus

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21.1-p12 have been identified as the molecular cause of ARPKD. The longest continuous open reading frame (ORF) is encoded by a 67-exon transcript and predicted to yield a 4074-amino acid protein...

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Share to Chromosomes, Human, Pair 6
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12506140
DOI: 10.1097/01.asn.0000039578.55705.6e

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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