Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

(2012) Ebele Usifo et al.   ANNALS OF HUMAN GENETICS

Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

(2011) Isabel De Castro-Orós et al.   HUMAN MUTATION

Update of the Portuguese Familial Hypercholesterolaemia Study

(2010) A.M. Medeiros et al.   ATHEROSCLEROSIS

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

(2009) A Taylor et al.   CLINICAL GENETICS

Hepatocyte Nuclear Factor 1α Plays a Critical Role inPCSK9Gene Transcription and Regulation by the Natural Hypocholesterolemic Compound Berberine

(2009) Hai Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

(2008) S. E. A. Leigh et al.   ANNALS OF HUMAN GENETICS