| http://purl.uniprot.org/citations/12730697 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12730697 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12730697 | http://www.w3.org/2000/01/rdf-schema#comment | "Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH. PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1161"xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1161"xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Cruaud C."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Cruaud C."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Weissenbach J."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Weissenbach J."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Prat A."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Prat A."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Benjannet S."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Benjannet S."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Seidah N.G."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Seidah N.G."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Devillers M."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Devillers M."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Junien C."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Junien C."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Bruckert E."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Bruckert E."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Wickham L."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Wickham L."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Allard D."xsd:string |
| http://purl.uniprot.org/citations/12730697 | http://purl.uniprot.org/core/author | "Allard D."xsd:string |