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Article

The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.

Journal of the American Society of Nephrology : JASN - 1 May 2002

Rossetti Sandro, Burton Sarah, Strmecki Lana, Pond Gregory R, San Millán Jośe L, Zerres Klaus, Barratt T Martin, Ozen Seza, Torres Vicente E, Bergstralh Erik J, Winearls Christopher G, Harris Peter C

Abstract excerpt

The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable. Clinical data was analyzed from 324 mutation-characterized PKD1 patients (80 families) to document factors associated with the renal outcome. The mean age to end-stage...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Genetic

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Source

Identifiers

PMID: 11961010
DOI: 10.1097/01.asn.0000013300.11876.37

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11961010-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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