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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. Among authors: homer vm. Hum Mutat. 2009 Feb;30(2):221-7. doi: 10.1002/humu.20839. Hum Mutat. 2009. PMID: 18853456
The molecular mechanisms of congenital hypofibrinogenaemia.
Maghzal GJ, Brennan SO, Homer VM, George PM. Maghzal GJ, et al. Among authors: homer vm. Cell Mol Life Sci. 2004 Jun;61(12):1427-38. doi: 10.1007/s00018-004-3458-8. Cell Mol Life Sci. 2004. PMID: 15197468 Review.
Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.
Homer VM, George PM, du Toit S, Davidson JS, Wilson CJ. Homer VM, et al. Ann Neurol. 2005 Jul;58(1):160-3. doi: 10.1002/ana.20531. Ann Neurol. 2005. PMID: 15984016
Novel fibrinogen Bbeta gene mutation causing hypofibrinogenaemia.
Homer VM, Brennan SO, George PM. Homer VM, et al. Thromb Haemost. 2002 Dec;88(6):1066-7. Thromb Haemost. 2002. PMID: 12529761 No abstract available.
Low expression of truncated Aalpha chain variant in circulating fibrinogen.
Brennan SO, Homer VM, Ockelford P, George PM. Brennan SO, et al. Among authors: homer vm. Thromb Haemost. 2002 Sep;88(3):533-4. Thromb Haemost. 2002. PMID: 12353086 No abstract available.
Four novel polymorphisms in the fibrinogen Aalpha gene.
Homer VM, Brennan SO, George PM. Homer VM, et al. Thromb Haemost. 2002 Feb;87(2):354-5. Thromb Haemost. 2002. PMID: 11858505 No abstract available.
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