Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II

Mucopolysaccharidosis II is a lysosomal storage disorder caused by mutations in the IDS gene, including exonic alterations associated with aberrant splicing. In the present work, cell-based splicing assays were performed to study the effects of two splicing mutations in exon 3 of IDS, i.e., c.241C&g...

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Bibliographic Details
Main Author: Matos, Liliana (author)
Other Authors: Gonçalves, Vânia (author), Pinto, Eugénia (author), Laranjeira, Francisco (author), Prata, Maria João (author), Jordan, Peter (author), Desviat, Lourdes R. (author), Perez, Belén (author), Alves, Sandra (author)
Format: article
Language:eng
Published: 2019
Subjects:
Doenças Genéticas
Lysosomal Storage Disorders
Splicing Regulation
Mutation
Antisense Therapy
IDS gene
Online Access:http://hdl.handle.net/10400.18/3429
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3429

Internet

http://hdl.handle.net/10400.18/3429

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