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A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
Davis RL, Homer VM, George PM, Brennan SO. Davis RL, et al. Hum Mutat. 2009 Feb;30(2):221-7. doi: 10.1002/humu.20839. Hum Mutat. 2009. PMID: 18853456
Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia.
Brennan SO, Davis RL, Lowen R, Ruskova A. Brennan SO, et al. Haematologica. 2009 Apr;94(4):585-8. doi: 10.3324/haematol.2008.001412. Epub 2009 Feb 19. Haematologica. 2009. PMID: 19229055 Free PMC article.
miR-92a Suppresses Mushroom Body-Dependent Memory Consolidation in Drosophila.
Guven-Ozkan T, Busto GU, Jung JY, Drago I, Davis RL. Guven-Ozkan T, et al. Among authors: davis rl. eNeuro. 2020 Jul 31:ENEURO.0224-20.2020. doi: 10.1523/ENEURO.0224-20.2020. Online ahead of print. eNeuro. 2020. PMID: 32737186
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