Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

Human genetics - 1 Feb 1998

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

Abstract excerpt

A search has been conducted for disease-causing mutations in the PKD1 gene in 147 unrelated ADPKD index cases. Using the polymerase chain reaction with primer pairs located in the 3' single copy region of the gene and single-strand conformation polymorphism analysis, we detected novel aberrant ba...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Frameshift Mutation
Share to PKD1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mutation

Share to Polycystic Kidney, Autosomal Dominant

Share to Polymorphism, Restriction Fragment Length

Share to Proteins

Source

Identifiers

PMID: 9521593
DOI: 10.1007/s004390050681

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9521593-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.PMID 9521593Read ↗

Novel mutations in the duplicated region of PKD1 gene.Semantic proximity Read ↗

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

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

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

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

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.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 ↗

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 ↗

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.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 ↗

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.