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Article

Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Dec 2008

Reed Berenice, McFann Kim, Kimberling William J, Pei York, Gabow Patricia A, Christopher Karen, Petersen Eric, Kelleher Catherine, Fain Pamela R, Johnson Ann, Schrier Robert W

Abstract excerpt

BACKGROUND: At the University of Colorado Health Sciences Center, on detailed questioning, approximately 10% of patients with autosomal dominant polycystic kidney disease (ADPKD) gave no family history of ADPKD. There are several explanations for this observation, including occurrence of a de nov...

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Identifiers

PMID: 18640754
DOI: 10.1053/j.ajkd.2008.05.015
PMCID: PMC2598385

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18640754-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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