Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
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Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.
Am J Hum Genet. 2011.
PMID: 21549341
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