The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln).
Sign Up to like & getrecommendations! Published in 2020 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2020.05.007
Abstract: BACKGROUND We previously showed that patients without pathogenic variants in the LDLR and PCSK9 genes comprised approximately 40% of familial hypercholesterolemia (FH) cases. OBJECTIVE Our aim was to identify novel causative variants in Japanese patients… read more here.
Keywords: apob; pathogenic variants; apob gene; japanese cases ... See more keywords
Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000014247
Abstract: Abstract Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein… read more here.
Keywords: familial hypercholesterolemia; saudi population; polymorphism; association ... See more keywords
Effect of APOB gene polymorphisms on body mass index, blood pressure, and total cholesterol levels: A cross-sectional study in Mexican population
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000030457
Abstract: APOB gene polymorphisms are considered risk factors for the development of dyslipidemia, hypertension, and cardiovascular disease (CVD) in several populations. In Mexico, these pathologies are frequent and studies regarding this gene are scarce. The aim… read more here.
Keywords: blood; gene polymorphisms; apob gene; blood pressure ... See more keywords