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TITLE: A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
AUTHORS: Andrea Balreira; Paulo Gaspar; Daniel Caiola; Joao Chaves; Idalina Beirao ; Jose Lopes Lima; Jorge Eduardo Azevedo ; Maria Clara Sa Miranda ;
PUBLISHED: 2008, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 17, ISSUE: 14
INDEXED IN: Scopus WOS CrossRef: 85
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