Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.

@article{Zapletalov2007AnalysisOP,
  title={Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.},
  author={Eva Zapletalov{\'a} and Petra Hedvic{\'a}kov{\'a} and Libor Koz{\'a}k and Petr Vondr{\'a}{\vc}ek and Renata Gaillyov{\'a} and Tat'{\'a}na Mař{\'i}kov{\'a} and Zdeněk Kalina and Vera J{\"u}ttnerov{\'a} and Jiř{\'i} Fajkus and Lenka Fajkusov{\'a}},
  journal={Neuromuscular disorders : NMD},
  year={2007},
  volume={17 6},
  pages={476-81}
}
Spinal muscular atrophy (SMA) is caused by homozygous deletion of the SMN1 gene in approximately 96% of cases. Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one. We performed analysis of point mutations in a set of our patients with suspicion of SMA and without homozygous deletion of the SMN1 gene. A quantitative test determining SMN1 copy number (using real-time PCR and/or MLPA analysis) was performed in 301… CONTINUE READING

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