ArticleF1000Research2022
Mutation spectrum analysis of
Article in F1000Research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.Molecular cytogenetics · 2026Article
- Advances in the Regulation by Immune Cells of Skeletal Myositis Outcomes.Aging and disease · 2025Review
- Genetic and clinical landscape of Duchenne muscular dystrophy in Guatemala: insights from a national study.Frontiers in genetics · 2025Article
- Mutation spectrum analysis ofF1000Research · 2022Article
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the Methods: This study is a cross sectional study that enrolled 43 male patients with a clinical suspicion of Results: Out of 43 subjects, deletions accounted for 69.77% (n=30) cases, while duplications were found in 11.63% (n=5) cases. One novel duplication spanning exons 2 to 62 was identified. Deletion mutations clustered around the distal (66.67%) and proximal (26.67%) hot spot regions of the Conclusion: This is the first comprehensive study showing the feasibility of implementing the MLPA method for routine screening of
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Registered trials
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