A carregar...
Publicação
CSTB: from cell to population and back
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 802.01 KB | JPEG | |||
| 56.95 KB | Adobe PDF |
Autores
Orientador(es)
Resumo(s)
Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD, EPM1, OMIM #254800), a rare form of myoclonic epilepsy. In this work, we aimed at investigating this rare disease by first analyzing the patient results, then examining the population through a population screening and, finally, exploring the cellular phenotype in order to assess the involvement of lysosomes.
Descrição
Palavras-chave
Doenças Genéticas Cistatina B Epilepsia Unverricht Lundborg
Contexto Educativo
Citação
Duarte AJ, Amaral O; CSTB: from cell to population and back, 12th international SPDM, P14: 92, 2016