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Article

Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model

7 Aug 2014

Abstract excerpt

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton's tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development. Here, we assessed the potential of antisense, splice-correcting oligonucleotides (SCOs) targeting mutated BTK transcripts for treating XLA. Both the SCO...

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PMID: 25105368
DOI: 10.1172/jci76175

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