Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants

Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family

(2011) Ana-Barbara Garcia-Garcia et al.   ATHEROSCLEROSIS

Assessment of Carotid Atherosclerosis in Normocholesterolemic Individuals With Proven Mutations in the Low-Density Lipoprotein Receptor or Apolipoprotein B Genes

(2011) Roeland Huijgen et al.   Circulation-Cardiovascular Genetics

Genetic variation inAPOB,PCSK9, andANGPTL3in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

(2011) Roeland Huijgen et al.   HUMAN MUTATION

Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals

(2010) V. Gudnason et al.   CLINICAL GENETICS

A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

(2010) P. Lombardi et al.   CLINICAL GENETICS

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

(2010) Roeland Huijgen et al.   HUMAN MUTATION

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