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Article

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.

Human molecular genetics - 1 Apr 1995

Peral B, Gamble V, San Millán J L, Strong C, Sloane-Stanley J, Moreno F, Harris P C

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease which frequently results in renal failure. The major ADPKD gene, polycystic kidney disease 1 (PKD1), has recently been identified. In an attempt to understand better the aetiology of this disorder we have searched for mutations in the PKD1 gene. Analysis of three regions in the 3' part of the gene has revealed two mutations that...

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Source

Identifiers

PMID: 7633405
DOI: 10.1093/hmg/4.4.569

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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Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.PMID 7633405Read ↗

Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

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Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.Semantic proximity Read ↗

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.Semantic proximity Read ↗

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.Semantic proximity Read ↗

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