An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

(2009) Maria Romano 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

Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia

(2009) R Minhas et al.   HEART

Utility of lymphoblastoid cell lines

(2009) L. Sie et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

(2009) Øystein L. Holla et al.   MOLECULAR GENETICS AND METABOLISM

A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: Application of the CD3/CD28 assay in lymphocytes

(2008) Hayato Tada et al.   CLINICA CHIMICA ACTA