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 mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.

Biomolecular engineering - 1 Jun 2007

Muscarella Lucia Anna, Piemontese Maria Rosaria, Barbano Raffaela, Fazio Antonina, Guarnieri Vito, Quattrone Alessandro, Zelante Leopoldo

Abstract excerpt

Mutations in the dystrophin gene result in both Duchenne and Becher muscular dystrophies (DMD and BMD). Approximately 65% of all mutations causing DMD are deletions (60%) or duplications (5%) of large segments of this gene, spanning one exon or more. Due to the large size of the dystrophin gene (79 exons), finding point mutations has been prohibitively expensive and laborious. Recent studies confirm the utility...

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dystrophin

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Muscular Dystrophy, Duchenne

Share to Time Factors

Source

Identifiers

PMID: 17145200
DOI: 10.1016/j.bioeng.2006.10.003

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.PMID 17145200Read ↗

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencingSemantic proximity Read ↗

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variantsSemantic proximity Read ↗

[Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography].Semantic proximity Read ↗

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.Semantic proximity Read ↗

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.Semantic proximity Read ↗

Genetic Variation Analysis and Treatment Strategy of 20 Patients with Dystrophin Gene MutationsSemantic proximity Read ↗

Genetic Variation Analysis and Treatment Strategy of 20 Patients with Dystrophin Gene MutationsSemantic proximity Read ↗

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.Semantic proximity Read ↗

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.Semantic proximity Read ↗

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patientsSemantic proximity Read ↗

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries.Semantic proximity Read ↗

A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis.Semantic proximity Read ↗

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