A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.

@article{Melville2005AMI,
  title={A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.},
  author={Scott A Melville and Carmen L. Wilson and Chiu S Chiang and Virginia P Studdert and Frode Lingaas and Alan N. Wilton},
  journal={Genomics},
  year={2005},
  volume={86 3},
  pages={287-94}
}
Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disease found in Border collie dogs, humans, and other animals. Disease gene studies in humans and animals provided candidates for the NCL gene in Border collies. A combination of linkage analysis and comparative genomics localized the gene to CFA22 in an area syntenic to HSA13q that contains the CLN5 gene responsible for the Finnish variant of human late infantile NCL. Sequencing of CLN5 revealed a nonsense mutation (Q206X) within… CONTINUE READING
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