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

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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 P...

Topics

Alternative Splicing
Base Sequence
DNA Primers
Exons
Female
Frameshift Mutation
Humans
Introns
Kidney Failure, Chronic
Male
Middle Aged
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Point Mutation

Polycystic Kidney, Autosomal Dominant

Polymerase Chain Reaction

Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 8554072
PMCID: PMC1914963

Genes

PKD1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8554072-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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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 ↗

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