Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene
- 28 February 2003
- journal article
- Published by Elsevier in Atherosclerosis
- Vol. 166 (2) , 395-400
- https://doi.org/10.1016/s0021-9150(02)00379-9
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Mutation in the ARH Gene and a Chromosome 13q Locus Influence Cholesterol Levels in a New Form of Digenic-Recessive Familial HypercholesterolemiaCirculation Research, 2002
- Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor ProteinScience, 2001
- Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia in Two Unrelated FamiliesAmerican Journal of Human Genetics, 2001
- Characterization of a New Form of Inherited HypercholesterolemiaArteriosclerosis, Thrombosis, and Vascular Biology, 1999
- Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.Journal of Clinical Investigation, 1995
- Familial defective apo B‐100, characterization of an Italian familyEuropean Journal of Clinical Investigation, 1991
- Quantitative analysis of sterols in serum by high-performance liquid chromatography : Application to the biochemical diagnosis of cerebrotendinous xanthomatosisJournal of Chromatography A, 1987
- [19] Receptor-mediated endocytosis of low-density lipoprotein in cultured cellsPublished by Elsevier ,1983
- The metabolism of very low density lipoprotein proteins I. Preliminary in vitro and in vivo observationsBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1972
- THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUMJournal of Clinical Investigation, 1955