ArticleMolecular biotechnology2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Article in Molecular biotechnology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed.
- Long-Read Sequencing Identified aHuman mutation · 2024Article
- Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies.International journal of molecular sciences · 2015Article
- Rapid detection of hepatitis B virus variants associated with lamivudine and adefovir resistance by multiplex ligation-dependent probe amplification combined with real-time PCR.Journal of clinical microbiology · 2014Article
- Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay.Journal of reproduction & infertility · 2012Article
- Molecular dermatopathology in malignant melanoma.Dermatology research and practice · 2012Article
- Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.International journal of molecular sciences · 2012Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Multiplex Ligation-dependent Probe Amplification assay (MLPA) is the method of choice for the initial mutation screen in the analysis of a large number of genes where partial or total gene deletion is part of the mutation spectrum. Although MLPA dosage probes are usually designed to bind to normal DNA sequence to identify dosage imbalance, point mutation-specific MLPA probes can also be made. Using the dystrophin gene as a model, we have designed two MLPA probe multiplexes that are specific to a number of commonly listed point mutations in the Leiden dystrophin point mutation database (http://www.dmd.nl). The point mutation probes are designed to work simultaneously with two widely used dystrophin MLPA multiplexes, allowing both full dosage analysis and partial point mutation analysis in a single test. This approach may be adapted for other syndromes with well defined common point mutations or polymorphisms.
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Registered trials
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