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Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Posters/abstracts em congressos internacionais >
Please use this identifier to cite or link to this item:
http://hdl.handle.net/10400.18/1085
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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
Epilepsia
CSTB |
| 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: http://www.sciencedirect.com/science/article/pii/S1096719211004343 |
| Peer Reviewed: | yes |
| URI: | http://hdl.handle.net/10400.18/1085 |
| Appears in Collections: | DGH - Posters/abstracts em congressos internacionais
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