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

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.

Journal of human genetics - 1 Oct 2017

Zimowski Janusz G, Pawelec Magdalena, Purzycka Joanna K, Szirkowiec Walentyna, Zaremba Jacek

Abstract excerpt

Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Dystrophin
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Gene Frequency

Share to Heterozygote

Share to Muscular Dystrophy, Duchenne

Share to Mutation

Source

Identifiers

PMID: 28680110
DOI: 10.1038/jhg.2017.70

Genes

DMD

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

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.PMID 28680110Read ↗

Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.Semantic proximity Read ↗

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.Semantic proximity Read ↗

[Detection of rare mutations in the dystrophin gene].Semantic proximity Read ↗

Small mutations of the DMD gene in Taiwanese families.Semantic proximity Read ↗

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases.Semantic proximity Read ↗

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.Semantic proximity Read ↗

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.Semantic proximity Read ↗

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection.Semantic proximity Read ↗

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.Semantic proximity Read ↗

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.Semantic proximity Read ↗

Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene.Semantic proximity Read ↗

Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using CDNA probes and the polymerase chain reaction method.Semantic proximity Read ↗

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