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

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

Genomics - 1 Feb 2008

Kozlowski Piotr, Bissler John, Pei York, Kwiatkowski David J

Abstract excerpt

Autosomal dominant polycystic kidney disease is largely due to mutations in PKD1. PKD1 has an unusual genomic structure, including a 2.5-kb polypyrimidine sequence in intron 21, which has been postulated to lead to a high rate of spontaneous genomic mutation events. In addition, the majority of the gene is duplicated three to six times at 97-99% identity elsewhere in the genome. To identify genomic mutations in...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to PKD1 gene
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polycystic Kidney, Autosomal Dominant

Share to TRPP Cation Channels

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 18060739
DOI: 10.1016/j.ygeno.2007.10.003
PMCID: PMC2268736

Genes

PKD1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.PMID 18060739Read ↗

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.Semantic proximity Read ↗

Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome.Semantic proximity Read ↗

Identification of <i>PKHD1</i> Multiexon Deletions Using Multiplex Ligation-Dependent Probe Amplification and Quantitative Polymerase Chain ReactionSemantic proximity Read ↗

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: some new findings.Semantic proximity Read ↗

Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney DiseaseSemantic proximity Read ↗

New applications and developments in the use of multiplex ligation-dependent probe amplification.Semantic proximity Read ↗

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.Semantic proximity Read ↗

Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome.Semantic proximity Read ↗

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

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.Semantic proximity Read ↗

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