Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy

Unverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. Presently, only pharmacological treatment and psychosocial support are available for ULD patients. To over...

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Detalhes bibliográficos
Autor principal: Matos, L. (author)
Outros Autores: Duarte, A. (author), Ribeiro, D. (author), Chaves, J. (author), Amaral, O. (author), Alves, S. (author)
Formato: article
Idioma:eng
Publicado em: 2019
Assuntos:
CSTB gene
antisense oligonucleotides
progressive myoclonic epilepsy type 1
splicing mutation
splicing therapies
Texto completo:http://hdl.handle.net/10400.16/2291
País:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/2291

Texto Completo

http://hdl.handle.net/10400.16/2291

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