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

Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE.

European journal of human genetics : EJHG - 1 Dec 2001

Peters D J, Ariyurek Y, van Dijk M, Breuning M H

Abstract excerpt

The PKD1-gene encodes a 14 kb transcript spanning a 50 kb genomic interval. Two-thirds of the gene is reiterated at another locus on the same chromosome. Using Long Range PCR with primers in intron 1 and exon 11, 6.8 kb PKD1 specific fragments were generated on genomic DNA. These products were used as templates for nested PCR's to screen exons 2-10 by Denaturing Gradient Gel Electrophoresis (DGGE). Upon analysis...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Electrophoresis
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to PKD1 gene

Share to Mutation

Share to Polycystic Kidney, Autosomal Dominant

Share to Proteins

Share to TRPP Cation Channels

Source

Identifiers

PMID: 11840199
DOI: 10.1038/sj.ejhg.5200756

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE.PMID 11840199Read ↗

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 ↗

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).Semantic proximity Read ↗

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

Novel mutations in the duplicated region of PKD1 gene.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 ↗

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

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.Semantic proximity Read ↗

Modification of PCR conditions and design of exon-specific primers for the efficient molecular diagnosis of PKD1 mutations.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 ↗

New mutations in the PKD1 gene in Czech population 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 ↗

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