Vivienne M. Homer

Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa

Vivienne M. Homer, A. David Marais, Francesca Charlton et al. · Atherosclerosis · 2007 · 86 citations

Lipid Disorder, Epidemiology, Non-secreted Pcsk9 Mutants +12

A deep intronic mutation in<i>FGB</i>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

Ryan L. Davis, Vivienne M. Homer, Peter M. George et al. · Human Mutation · 2008 · 62 citations

Aberrant Mrna Splicing, Genetics, Rna Splicing +18

Novel Aα chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization

Vivienne M. Homer, Jennifer L. Mullin, Stephen O. Brennan et al. · Journal of Thrombosis and Haemostasis · 2003 · 18 citations · Full text

Protein Expression, Biochemistry, Protein Folding +7

Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia

Vivienne M. Homer, Peter M. George, Stephen Du Toit et al. · Annals of Neurology · 2005 · 14 citations