CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

@article{Xin2010CLN5MA,
  title={CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.},
  author={Winnie W. Xin and Thomas E. Mullen and Rosemary Kiely and Jiang Min and X-h Feng and Yonghao Cao and Lei O'Malley and Yufeng Shen and Catherine J Chu-Shore and Sara E Mole and Hans Hilmar Goebel and Katherine Sims},
  journal={Neurology},
  year={2010},
  volume={74 7},
  pages={565-71}
}
OBJECTIVES To explore a potential expansion of the phenotypic and genotypic characteristics of Finnish variant late-infantile neuronal ceroid lipofuscinosis (NCL), we screened a collection of 47 patients with clinically diagnosed NCL in whom no molecular diagnosis had been made. METHODS We used PCR amplification of genomic DNA, followed by fluorescent… CONTINUE READING