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Article

Regulation of Neuron-Specific Alternative Splicing of Neurofibromatosis Type 1 Pre-mRNA

18 Dec 2007

Abstract excerpt

Neurofibromatosis type 1 (NF1) is one of the most common heritable autosomal dominant disorders. Alternative splicing modulates the function of neurofibromin, the NF1 gene product, by inserting the in-frame exon 23a into the region of NF1 mRNA that encodes the GTPase-activating protein-related domain. This insertion, which is predominantly skipped in neurons, reduces the ability of neurofibromin to regulate Ras...

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PMID: 18086893
DOI: 10.1128/mcb.01509-07

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