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Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

14 Mar 2022

Abstract excerpt

We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase activating protein (GAP)-related domain (GRD) function. Initial in silico analysis predicted exons that can be skipped with minimal loss of neurofibromin function,...

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PMID: 35433111
DOI: 10.1016/j.omtn.2022.03.011

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