Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

(2013) Stefano Bertolini et al.   ATHEROSCLEROSIS

Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail

(2012) H. Dvir et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular characterization of familial hypercholesterolemia in Spain

(2011) Lourdes Palacios et al.   ATHEROSCLEROSIS

Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum

(2011) Thea Bismo Strøm et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

(2011) Aitor Etxebarria et al.   HUMAN MUTATION

Protein Sorting Receptors in the Early Secretory Pathway

(2010) Julia Dancourt et al.   Annual Review of Biochemistry

Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling

(2010) M. J. Kotze et al.   CLINICAL GENETICS

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

(2010) Marie Marduel et al.   HUMAN MUTATION

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations

(2010) M. Chmara et al.   JOURNAL OF APPLIED GENETICS

Nonsense‐mediated decay of human LDL receptor mRNA

(2009) Øystein Lunde Holla et al.   SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION

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