%0 Journal Article %J Human Molecular Genetics %D 2008 %T A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome %A Balreira, A. %A Gaspar, P. %A Caiola, D. %A Chaves, J. %A Beirão, I. %A Lima, J.L. %A Azevedo, J.E. %A Miranda, M.C.S. %B Human Molecular Genetics %V 17 %P 2238 - 2243 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-46249129691&partnerID=40&md5=e93af0c3d5f18d15e8eb3e708a416cd5 %N 14