Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

@article{Dunnen1989TopographyOT,
  title={Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.},
  author={Johan T den Dunnen and P. M. Grootscholten and Egbert Bakker and Lau A. J. Blonden and Hendrika B Ginjaar and Martin C. Wapenaar and H M van Paassen and Christine van Broeckhoven and Peter L. Pearson and Gertjan JB van Ommen},
  journal={American journal of human genetics},
  year={1989},
  volume={45 6},
  pages={
          835-47
        }
}
We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight mutations (65%) were found, 115 deletions and 13 duplications, of which 106 deletions and 11 duplications could be precisely mapped in relation to both the mRNA and the major and minor mutation hot spots. Junction fragments, ideal markers for carrier detection, were found in 23 (17%) of the 128 cases. We identified eight new… CONTINUE READING
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