Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

@article{Cusc2004DetectionON,
  title={Detection of novel mutations in the SMN Tudor domain in type I SMA patients.},
  author={Iv{\'o}n Cusc{\'o} and Mar{\'i}a Jes{\'u}s Barcel{\'o} and E Reyes Espinosa del Rio and Montserrat Baiget and Eduardo F. Tizzano},
  journal={Neurology},
  year={2004},
  volume={63 1},
  pages={146-9}
}
The authors present a complete SMN gene analysis in four type I unrelated spinal muscular atrophy patients who retained one copy of the SMN1 gene. Two intragenic point mutations were identified in exon 3 (I116F, Q136E), affecting a very conserved region with the Tudor domain of SMN1. The remaining two patients showed no alterations in the SMN1 coding… CONTINUE READING