Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH)
Articolo
Data di Pubblicazione:
2003
Citazione:
Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH) / R. Fellin, G. Zuliani, M. Arca, P. Pintus, A. Pacifico, A. Montali, A. Corsini, M. Maioli. - In: NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. - ISSN 0939-4753. - 13:5(2003 Oct), pp. 278-286.
Abstract:
Inherited hypercholesterolemias are common disorders characterised by elevated LDL-C levels and premature coronary heart disease. We have recently described a recessive form of hypercholesterolemia (autosomal recessive hypercholesterolemia, ARH) in which LDL catabolism is reduced because of a mutation in the gene coding for an adaptor protein that impairs LDL-receptor (LDL-R) activity in the liver. The aim of this study was to characterise in detail the phenotypes of subjects with homozygous and heterozygous ARH.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Autosomal recessive; Hypercholesterolemia; Phenotype
Elenco autori:
R. Fellin, G. Zuliani, M. Arca, P. Pintus, A. Pacifico, A. Montali, A. Corsini, M. Maioli
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