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 dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.

Neuromuscular disorders : NMD - 1 Mar 2001

Fajkusová L, Lukás Z, Tvrdíková M, Kuhrová V, Hájek J, Fajkus J

Abstract excerpt

The complete dystrophin mRNA sequence has been analyzed in 20 Duchenne muscular dystrophy and Becker muscular dystrophy patients. In 13 cases, deletions in mRNA were detected using reverse transcription-polymerase chain reaction and in another seven cases, point mutations were found using the protein truncation test. Sixteen patients diagnosed with Duchenne muscular dystrophy showed the presence of deletions or...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Codon, Nonsense

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

Share to Dystrophin

Share to Immunohistochemistry

Share to Muscle, Skeletal

Share to Muscular Dystrophies

Share to Point Mutation

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 11257468
DOI: 10.1016/s0960-8966(00)00169-3

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 dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.PMID 11257468Read ↗

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

A novel nonsense mutation in the human dystrophin gene.Semantic proximity Read ↗

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.Semantic proximity Read ↗

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.Semantic proximity Read ↗

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.Semantic proximity Read ↗

Point mutations in the dystrophin gene.Semantic proximity Read ↗

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.Semantic proximity Read ↗

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.Semantic proximity Read ↗

Point mutation in the human dystrophin gene: identification through western blot analysis.Semantic proximity Read ↗

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.Semantic proximity Read ↗

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.Semantic proximity Read ↗

Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.Semantic proximity Read ↗

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