Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.
Sign Up to like & getrecommendations! Published in 2019 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2019.11.025
Abstract: BACKGROUND AND AIMS Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR,APOB and PCSK9. Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in… read more here.
Keywords: hypercholesterolemia; stap1; family; predicted pathogenic ... See more keywords
Mice lacking global Stap1 expression do not manifest hypercholesterolemia
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-01176-x
Abstract: Background Autosomal dominant familial hypercholesterolemia (ADH; MIM#143890) is one of the most common monogenic disorders characterized by elevated circulatory LDL cholesterol. Initial studies in humans with ADH identified a potential relationship with variants of the… read more here.
Keywords: global stap1; hypercholesterolemia; lacking global; stap1 ... See more keywords