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    A novel p.Leu(381)Phe mutation in Presenilin 1 is associated with very early onset and unusually fast progressing dementia, and lysosomal inclusions typically seen in Kufs disease

    A novel p.Leu(381)Phe mutation in Presenilin 1 is associated with very early onset and unusually fast progressing dementia, and lysosomal inclusions typically seen in Kufs disease gan Dolzhanskaya, Natalia, Gonzalez, Michael A., Sperziani, Fiorella, Stefl, Shannon, Messing, Jeffrey, Wen, Guang Y, Alexov, Emil, Stephan Zuchner, S, Velinov, Milen

    Cyhoeddwyd 2014
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