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Article

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

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

Furu Laszlo, Onuchic Luiz F, Gharavi Ali, Hou Xiaoying, Esquivel Ernie L, Nagasawa Yasuyuki, Bergmann Carsten, Senderek Jan, Avner Ellis, Zerres Klaus, Germino Gregory G, Guay-Woodford Lisa M, Somlo Stefan

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a hereditary and severe form of polycystic disease affecting the kidneys and biliary tract with an estimated incidence of 1 in 20,000 live births. The clinical spectrum is widely variable: up to 50% of affected neonates die shortly after birth, whereas others survive to adulthood. Mutations at a single locus, polycystic kidney and hepatic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12874454
DOI: 10.1097/01.asn.0000078805.87038.05

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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