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 screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

Molecular genetics and metabolism - 1 Jan 2005

Biggin Andrew, Henke Robert, Bennetts Bruce, Thorburn David R, Christodoulou John

Abstract excerpt

Over 170 known mutations of the mitochondrial genome are responsible for disease. Due to the unique features of mitochondrial genetics, such patients are clinically diverse and difficult to diagnose. As pathogenic mitochondrial DNA (mtDNA) mutations are mostly heteroplasmic, denaturing high-performance liquid chromatography (DHPLC) could be used to detect these heteroplasmic species and therefore act as a rapid...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Mitochondrial

Share to DNA Mutational Analysis

Share to DNA Primers

Share to Mutagenesis, Site-Directed

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 15639196
DOI: 10.1016/j.ymgme.2004.09.011

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

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.PMID 15639196Read ↗

Advantages and considerations in the confirmation of mitochondrial DNA mutations by denaturing HPLC and pyrosequencing.Semantic proximity Read ↗

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.Semantic proximity Read ↗

Quantitative mitochondrial DNA mutation analysis by denaturing HPLC.Semantic proximity Read ↗

Denaturing HPLC for mutation screening.Semantic proximity Read ↗

Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy.Semantic proximity Read ↗

Searching for a needle in the haystack: comparing six methods to evaluate heteroplasmy in difficult sequence context.Semantic proximity Read ↗

Denaturing high-performance liquid chromatography for mutation detection and genotyping.Semantic proximity Read ↗

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing.Semantic proximity Read ↗

Qualitative and quantitative detection of mitochondrial heteroplasmy in cerebrospinal fluid using denaturing high-performance liquid chromatography.Semantic proximity Read ↗

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.Semantic proximity Read ↗

Determination of DNA mutation load in human tissues using denaturing HPLC-based heteroduplex analysis.Semantic proximity Read ↗

Comprehensive scanning of the entire mitochondrial genome for mutations.Semantic proximity Read ↗

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