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Article

Human gene mutations. Gene symbol: PKD1. Disease: Polycystic kidney disease.

Human genetics - 1 Jan 1998

Daniells C, Maheshwar M, Lazarou L, Davies F, Coles G, Ravine D

Abstract excerpt

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Share to PKD1 gene
Share to Molecular Sequence Data
Share to Mutation
Share to Polycystic Kidney, Autosomal Dominant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 9490292

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Human gene mutations. Gene symbol: PKD1. Disease: Polycystic kidney disease.PMID 9490292Read ↗

Polycystic kidney disease: The complete structure of the PKD1 gene and its proteinSemantic proximity Read ↗

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A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.Semantic proximity Read ↗

[Analysis of PKD1 gene mutation in a pedigree affected with autosomal dominant polycystic kidney disease].Semantic proximity Read ↗

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigreesSemantic proximity Read ↗

Autosomal recessive polycystic kidney disease (ARPKD): new insights from the identification of the ARPKD gene, PKHD1.Semantic proximity Read ↗

Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs.Semantic proximity Read ↗

A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

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