Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene
Unverricht-Lundborg disease (ULD or EPM1) is the most common form of progressive myoclonic epilepsy (PME) worldwide. It is an autosomal recessive neurodegenerative disorder caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. An unstable expans...
| Autor principal: | |
|---|---|
| Outros Autores: | , , , , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2014
|
| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/2155 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/2155 |