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Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form


  • C Kay

    Corresponding author
    1. Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia, Canada V5Z 4H4.
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1.Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2009: 1793: 697709.

2.Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002: 30: 97101.

3.Getty AL, Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell Mol Life Sci 2011: 68: 453447.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

Arsov et al. (2011)

American Journal of Human Genetics 88(5): 566–573.