Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

Autosomal dominant hypercholesterolemia (ADH) is a frequent (1/500) monogenic inherited disorder characterized by isolated elevation of LDL leading to premature cardiovascular disease. ADH is known to result from mutations at two main loci: LDLR (encoding the low density lipoprotein receptor), and A...

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Veröffentlicht in:	Human mutation 2005-11, Vol.26 (5), p.497-497
Hauptverfasser:	Allard, Delphine, Amsellem, Sabine, Abifadel, Marianne, Trillard, Mélanie, Devillers, Martine, Luc, Gérald, Krempf, Michel, Reznik, Yves, Girardet, Jean-Philippe, Fredenrich, Alexandre, Junien, Claudine, Varret, Mathilde, Boileau, Catherine, Benlian, Pascale, Rabès, Jean-Pierre
Format:	Artikel
Sprache:	eng
Schlagworte:	Apolipoproteins Apolipoproteins B - genetics autosomal dominant hypercholesterolemia (ADH) Cardiovascular disease Cholesterol DNA Mutational Analysis Genes Genetic testing Genotype & phenotype Humans Hypercholesterolemia - diagnosis Hypercholesterolemia - genetics Ligands Low density lipoprotein receptors missense mutation Mutation Mutation, Missense PCSK9 Pediatrics Pedigree Phenotype Physical Chromosome Mapping Plasma Proprotein Convertase 9 Proprotein Convertases Receptors, LDL - genetics Serine Endopeptidases - genetics
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