Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Smith, Katherine R.; Dahl, Hans-Henrik M.; Canafoglia, Laura; Andermann, Eva; Damiano, John; Morbin, Michela; Bruni, Amalia C.; Giaccone, Giorgio; Cossette, Patrick; Saftig, Paul; Grötzinger, Joachim; Schwake, Michael; Andermann, Frederick; Staropoli, John F.; Sims, Katherine B.; Mole, Sara E.; Franceschetti, Silvana; Alexander, Noreen A.; Cooper, Jonathan D.; Chapman, Harold A.; Human Molecular Genetics, 2013, vol. 22, issue 7, p 1417, ISSN 09646906. ISBN 14602083.

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