Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Author： 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.   Carpenter Stirling   Berkovic Samuel F.   Bahlo Melanie  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.22, Iss.7, 2013-04, pp. : 1417-1423

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