Construction of a New Familial Hypercholesterolemia Variant Data Base. A Systematic Review for a 2015 Update

Azevedo, S.; Chora, J.R; Alves, A.C; Medeiros, A.M.; Bourbon, Mafalda

http://hdl.handle.net/10400.18/3847

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Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder with increased cardiovascular risk, caused by mutations in LDLR, APOB and PCSK 9 genes. Although it is described that over 1700 variants have been found, none of the existing databases are completely updated. The aim of this work is to construct a FH database in order to provide a unique source of verified information about variants associated with FH for a more accurate genetic diagnosis.