Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

@article{Kesari2008IntegratedDC,
  title={Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule},
  author={A. Kesari and L. Pirra and Lakshmi Bremadesam and O. McIntyre and E. Gordon and A. Dubrovsky and V. Viswanathan and E. Hoffman},
  journal={Human Mutation},
  year={2008},
  volume={29}
}
Becker muscular dystrophy (BMD) is a milder form of X‐linked Duchenne muscular dystrophy (DMD). Here, we report a study of 75 patients with immunoblot and/or immunostaining findings of muscle biopsy consistent with BMD (abnormal dystrophin). We utilized multiplex ligation dependent probe amplification (MLPA) on genomic DNA (gDNA) to screen all 79 exons for both deletions and duplications. A total of 19 patients testing negative for MLPA mutations were tested for mRNA splicing abnormalities… Expand
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TLDR
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