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TITLE: Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
AUTHORS: Katherine R Smith; Hans Henrik M Dahl; Laura Canafoglia; Eva Andermann; John Damiano; Michela Morbin; Amalia C Bruni; Giorgio Giaccone; Patrick Cossette; Paul Saftig; Joachim Groetzinger; Michael Schwake; Frederick Andermann; John F Staropoli; Katherine B Sims; Sara E Mole; Silvana Franceschetti; Noreen A Alexander; Jonathan D Cooper; Harold A Chapman; Stirling Carpenter; Samuel F Berkovic; Melanie Bahlo; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef