Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

@article{Schwartz2004ImprovedMD,
  title={Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.},
  author={Marianne Schwartz and Morten Dun\o},
  journal={Genetic testing},
  year={2004},
  volume={8 4},
  pages={361-7}
}
Mutation detection in the DMD gene defective in Duchenne (DMD) and Becker muscular dystrophies (BMD) is complicated by the presence of 79 exons. The majority of recognized mutations are, however, copy number changes of individual exons, which traditionally have been identified by three common multiplex polymerase chain reaction (PCR) assays and/or Southern blotting. Here we report the use of the newly developed quantitative assay multiplex ligation-dependent probe amplification (MLPA) to… CONTINUE READING

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telomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation - dependent probe amplification ( MLPA )

  • R. VAN LUIJK
  • Hum . Mutat
  • 2004

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