Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

Epigenetic Nucleosomes: Alu Sequences and CG as Nucleosome Positioning Element

(2012) F. Salih et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

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

(2009) A Taylor et al.   CLINICAL GENETICS

Mapping Insertions, Deletions and SNPs on Venter's Chromosomes

(2009) Maria Costantini et al.   PLoS One

Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

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

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

(2008) A. Neil et al.   EUROPEAN HEART JOURNAL

Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements

(2008) Adam J. de Smith et al.   PLoS One