Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3847
Título: Construction of a New Familial Hypercholesterolemia Variant Data Base. A Systematic Review for a 2015 Update
Autor: Azevedo, S.
Chora, J.R
Alves, A.C
Medeiros, A.M.
Bourbon, Mafalda
Palavras-chave: Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolemia
Data: Mai-2016
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: 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.
URI: http://hdl.handle.net/10400.18/3847
Aparece nas colecções:DPSPDNT - Posters/abstracts em congressos internacionais

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