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Article

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).

Human mutation - 1 Dec 2009

Pérez B, Rincón A, Jorge-Finnigan A, Richard E, Merinero B, Ugarte M, Desviat L R

Abstract excerpt

Development of pseudoexon exclusion therapies by antisense modification of pre-mRNA splicing represents a type of personalized genetic medicine. Here we present the cellular antisense therapy and the cell-based splicing assays to investigate the effect of two novel deep intronic changes c.1957-89...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 19862841
DOI: 10.1002/humu.21118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19862841-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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