Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.

@article{Tuffery1996FourND,
  title={Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.},
  author={Sylvie Tuffery and Corinne Bareil and Jacques Demaille and Mireille Claustres},
  journal={European journal of human genetics : EJHG},
  year={1996},
  volume={4 3},
  pages={143-52}
}
About 30% of cases of Duchenne muscular dystrophy (DMD) result from point mutations randomly distributed in the immense dystrophin gene. As already observed for the gross rearrangements, most of the DMD point mutations identified so far give rise to truncated proteins. Here, we report results of a comprehensive search for point mutations within the dystrophin gene based on illegitimate transcript analysis by using the RT-PCR technique in combination with a method capable of selectively… CONTINUE READING
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