3 documents found, page 1 of 1
Construction of a New Familial Hypercholesterolemia Variant Data Base. A System...
Azevedo, S.; Chora, J.R; Alves, A.C; Medeiros, A.M.; Bourbon, MafaldaAims: 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 asso...
The importance of an integrated analysis of clinical, molecular, and functional...
Benito-Vicente, A.; Alves, A.C; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, M.Purpose: Familial hypercholesterolemia (FH) is one of the most common monogenic disorders, and the high concentrations of low-density lipoprotein (LDL) cholesterol presented since birth confers on these patients an increased cardiovascular risk. More than 1,600 alterations have been described in the LDL receptor gene (LDLR), but a large number need to be validated as mutations causing disease to establish a dia...
Mutational analysis of the Portuguese cohort with clinical diagnosis of FH
Medeiros, A.M.; Alves, A.C; Bourbon, M.INTRODUCTION : Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism (1:500 frequency), caused by mutations in genes involved in cholesterol’s clearance. FH patients present high levels of plasma cholesterol since birth, and if untreated, develop premature coronary heart disease (pCHD). The aim of the Portuguese FH Study is to promote the early identification and charact...