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Title: Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy
Authors: Amaral, O.
Duarte, A.
Pinto, E.
Freitas, J.
Chaves, J.
Keywords: Doenças Genéticas
Issue Date: Feb-2012
Abstract: Unverricht-Lundborg disease (ULD; MIM 254800) is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations (locus 21q22.3; MIM 601145), with cystatin B loss of function and subsequent loss of lysosomal association, have been described as the major cause of this disease.
Description: Publicado em: Molecular Genetics and Metabolism 105 (2012) S15–S69. Disponível em:
Peer Reviewed: yes
Appears in Collections:DGH - Posters/abstracts em congressos internacionais

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