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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.
Novel fibrinogen mutations (Aα17Gly→Cys and Aα381Ser→Phe) occurring with a 312Thr→Ala polymorphism: allelic phase assigned by direct mass measurement.
Brennan SO, Laurie AD, Mo A, Grigg A. Brennan SO, et al. Blood Coagul Fibrinolysis. 2015 Dec;26(8):882-6. doi: 10.1097/MBC.0000000000000316. Blood Coagul Fibrinolysis. 2015. PMID: 26083984
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