Functional Characterization of Two Low-Density Lipoprotein Receptor Gene Mutations in Two Chinese Patients with Familial Hypercholesterolemia

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

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

In vitro functional characterization of missense mutations in the LDLR gene

(2012) S. Silva et al.   ATHEROSCLEROSIS

Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

(2012) Marianne Benn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Molecular characterization of familial hypercholesterolemia in Spain

(2011) Lourdes Palacios et al.   ATHEROSCLEROSIS

Subjects with Molecularly Defined Familial Hypercholesterolemia or Familial Defective apoB-100 Are Not Being Adequately Treated

(2011) Trond P. Leren et al.   PLoS One

Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

(2008) Fernando Civeira et al.   AMERICAN JOURNAL OF CARDIOLOGY

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

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients

(2008) L. Wang et al.   NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES