Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I.

@article{Brahe1996FrameshiftMI,
  title={Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I.},
  author={Christina Brahe and Olivier Clermont and Stefania Zappata and Francesco D. Tiziano and Judith Melki and Giovanni Neri},
  journal={Human molecular genetics},
  year={1996},
  volume={5 12},
  pages={1971-6}
}
Recently, a spinal muscular atrophy (SMA) determining gene, termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region and found deleted in most patients. A highly homologous copy of this gene has also been isolated and located in a centromeric position. We have analyzed 158 patients (SMA types I-IV) and found deletions of SMN exon 7 in 96.8%. Mutations other than gross deletions seem to be extremely rare. In one of the undeleted SMA type I patients, a newborn who survived… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 42 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 25 references

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy

  • J. M. Cobben, G. van der Steege, +4 authors C.H.C.M
  • Am. J .Hum. Genet .,
  • 1995

Similar Papers

Loading similar papers…