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

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.

Human molecular genetics - 1 Nov 1992

Winnard A V, Jia-Hsu Y, Gibbs R A, Mendell J R, Burghes A H

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Polymerase Chain Reaction
Share to Amino Acid Sequence
Share to Base Sequence
Share to DNA

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

Share to Molecular Sequence Data

Share to Muscular Dystrophies

Share to RNA, Messenger

Share to RNA Splicing

Source

Identifiers

PMID: 1301174
DOI: 10.1093/hmg/1.8.645

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

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.PMID 1301174Read ↗

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.Semantic proximity Read ↗

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.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 ↗

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

In vivo and In vitro methods to identify DNA sequence variants that alter RNA Splicing.Semantic proximity Read ↗

Splicing mutation of a gene within the Duchenne muscular dystrophy family.Semantic proximity Read ↗

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.Semantic proximity Read ↗

Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.Semantic proximity Read ↗

In silico prediction of splice-affecting nucleotide variants.Semantic proximity Read ↗

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

[c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity].Semantic proximity Read ↗

Duchenne muscular dystrophy caused by a novel deep intronic DMD mutation.Semantic proximity Read ↗

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