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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Soutar, A.K.
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) | | Feb-2008 | Familial hypercholesterolaemia in Portugal | Bourbon, M.; Alves, A.C.; Medeiros, A.M.; Silva, S.; Soutar, A.K.; Investigators of Portuguese FH Study |
| May-2009 | Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations | Bourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K. |
| May-2012 | In silico versus in vitro analysis of LDLR mutations | Alves, A.C.; Silva, S.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M. |
| 10-Aug-2012 | In vitro functional characterization of missense mutations in the LDLR gene | Silva, S.; Alves, A.C.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M. |
| 28-Feb-2007 | A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing | Bourbon, M.; Sun, X.M.; Soutar, A.K. |
Showing results 1 to 5 of 5
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