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Article

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

American journal of human genetics - 1 Jan 1996

Peral B, San Millán J L, Ong A C, Gamble V, Ward C J, Strong C, Harris P C

Abstract excerpt

Recently, the gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1 (polycystic kidney disease 1), has been fully characterized and shown to encode an integral membrane protein, polycystin, involved in cell-cell and/or cell-matrix interactions. Study of the PKD1 gene has been complicated because most of the gene lies in a genomic region reiterated several times elsewhere on...

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Source

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Identifiers

PMID: 8554072
PMCID: PMC1914963

Genes

PKD1
TSC2

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.

Related research

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Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.PMID 8554072Read ↗

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 ↗

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.Semantic proximity Read ↗

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.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 ↗

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.Semantic proximity Read ↗

Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Molecular genetics of polycystic kidney disease.Semantic proximity Read ↗

Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.Semantic proximity Read ↗

Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.Semantic proximity Read ↗

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

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