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Article

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

American journal of human genetics - 1 Oct 1997

Sampson J R, Maheshwar M M, Aspinwall R, Thompson P, Cheadle J P, Ravine D, Roy S, Haan E, Bernstein J, Harris P C

Abstract excerpt

Tuberous sclerosis is an autosomal dominant trait characterized by the development of hamartomatous growths in many organs. Renal cysts are also a frequent manifestation. Major genes for tuberous sclerosis and autosomal dominant polycystic kidney disease, TSC2 and PKD1, respectively, lie adjacent to each other at chromosome 16p13.3, suggesting a role for PKD1 in the etiology of renal cystic disease in tuberous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9382094
DOI: 10.1086/514888
PMCID: PMC1716004

Genes

PKD1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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