Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.

@article{Yamakawa1995IsolationAC,
  title={Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.},
  author={Kazuhiro Yamakawa and Sharon Mitchell and Rene Hubert and X N Chen and S G Colbern and Y K Huo and C Gadomski and Un Jung Kim and Julie R. Korenberg},
  journal={Human molecular genetics},
  year={1995},
  volume={4 4},
  pages={709-16}
}
The Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) and autoimmune polyglandular disease type I (APECED) have been mapped to human chromosome 21q22.3 by genetic linkage analysis and/or linkage disequilibrium studies. In order to isolate the genes for these disorders, we have constructed BAC contigs in this region and a 14 week trisomy 21 fetal brain cDNA library. A direct cDNA selection technique, modified to permit the recovery 5' and 3' ends of cDNA, was applied to gene… CONTINUE READING

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