The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

doi:10.1038/ng833

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Article

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Nature genetics - 1 Mar 2002

Ward Christopher J, Hogan Marie C, Rossetti Sandro, Walker Denise, Sneddon Tam, Wang Xiaofang, Kubly Vicky, Cunningham Julie M, Bacallao Robert, Ishibashi Masahiko, Milliner Dawn S, Torres Vicente E, Harris Peter C

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality. Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between the rat locus and the ARPKD region in humans; a candidate gene was identified. A mutation was...

Topics

Adult
Amino Acid Sequence
Animals
Cloning, Molecular
Female
Genetic Testing
Heterozygote
Humans
Infant
Infant, Newborn
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Polycystic Kidney, Autosomal Recessive

RNA, Messenger

Rats

Rats, Sprague-Dawley

Receptors, Cell Surface

Source

Open in PubMed

Identifiers

PMID: 11919560
DOI: 10.1038/ng833

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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