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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
Publicado no:Genes (Basel)
Main Authors: Matos, Liliana, Duarte, Ana Joana, Ribeiro, Diogo, Chaves, João, Amaral, Olga, Alves, Sandra
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6162617/
https://ncbi.nlm.nih.gov/pubmed/30208654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes9090455
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