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Article

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication.

Kidney international - 1 Jul 1997

Torra R, Badenas C, Darnell A, Brú C, Escorsell A, Estivill X

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal hereditary disorder. Clinical expression of ADPKD shows interfamilial and intrafamilial variability. We screened for mutations the 3' region of the PKD1 gene, from exon 43 to exon 46, in a family showing anticipation an...

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Source

Identifiers

PMID: 9211343
DOI: 10.1038/ki.1997.300

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9211343-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication.PMID 9211343Read ↗

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