Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia von Shapiro, Susan E., Phillips, Emma, Manning, Richard A., Morse, Colin V., Murden, Sherina L., Laffan, Michael A., Mumford, Andrew D.

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A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis von Mumford, Andrew D., Dawood, Ban B., Daly, Martina E., Murden, Sherina L., Williams, Michael D., Protty, Majd B., Spalton, Jennifer C., Wheatley, Mark, Mundell, Stuart J., Watson, Steve P.

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Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis von Westbury, Sarah K., Duval, Cédric, Philippou, Helen, Brown, Rebecca, Lee, Kurtis R., Murden, Sherina L., Phillips, Emma, Reilly-Stitt, Christopher, Whalley, Daniel, Ariëns, Robert A., Mumford, Andrew D.

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Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2 von Jones, Matthew L, Murden, Sherina L, Brooks, Claire, Maloney, Viv, Manning, Richard A, Gilmour, Kimberly C, Bharadwaj, Vandana, de la Fuente, Josu, Chakravorty, Subarna, Mumford, Andrew D

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Low multiple electrode aggregometry platelet responses are not associated with non-synonymous variants in G-protein coupled receptor genes von Norman, Jane E, Lee, Kurtis R, Walker, Mary E, Murden, Sherina L, Harris, Jessica, Mundell, Stuart, J. Murphy, Gavin, Mumford, Andrew D

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The protein C ω‐loop substitution Asn2Ile is associated with reduced protein C anticoagulant activity von Preston, Roger J. S., Morse, Colin, Murden, Sherina L., Brady, Sara Kate, O’Donnell, James S., Mumford, Andrew D.

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Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2 von Jones, Matthew L, Murden, Sherina L, Brooks, Claire, Maloney, Viv, Manning, Richard A, Gilmour, Kimberly C, Bharadwaj, Vandana, de la Fuente, Josu, Chakravorty, Subarna, Mumford, Andrew D

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The protein C ω-loop substitution Asn2lle is associated with reduced protein C anticoagulant activity von PRESTON, Roger J. S, MORSE, Colin, MURDEN, Sherina L, KATE BRADY, Sara, O'DONNELL, James S, MUMFORD, Andrew D

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A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction von Nisar, Shaista P., Lordkipanidzé, Marie, Jones, Matthew L., Dawood, Ban B., Murden, Sherina, Cunningham, Margaret R., Mumford, Andrew D., Wilde, Jonathan T., Watson, Steve P., Mundell, Stuart J., Lowe, Gillian C.

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