Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene

Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonic epilepsy 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 expansion, missense,...

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Detalhes bibliográficos
Autor principal: Matos, L. (author)
Outros Autores: Duarte, A.J. (author), Ribeiro, D. (author), Jordan, P. (author), Prata, M.J. (author), Chaves, J. (author), Desviat, L.R. (author), Pérez, B. (author), Amaral, O. (author), Alves, S. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2015
Assuntos:
Doenças Genéticas
Genética Humana
Unverricht-Lundborg Disease
Texto completo:http://hdl.handle.net/10400.18/2848
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2848

Texto Completo

http://hdl.handle.net/10400.18/2848

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