| pubmed-article:12730697 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12730697 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:12730697 | lifeskim:mentions | umls-concept:C0745103 | lld:lifeskim |
| pubmed-article:12730697 | lifeskim:mentions | umls-concept:C1426592 | lld:lifeskim |
| pubmed-article:12730697 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:12730697 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:12730697 | pubmed:dateCreated | 2003-5-30 | lld:pubmed |
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| pubmed-article:12730697 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12730697 | pubmed:abstractText | 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. | lld:pubmed |
| pubmed-article:12730697 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12730697 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12730697 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12730697 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12730697 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:12730697 | pubmed:issn | 1061-4036 | lld:pubmed |
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| pubmed-article:12730697 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12730697 | pubmed:volume | 34 | lld:pubmed |
| pubmed-article:12730697 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12730697 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12730697 | pubmed:pagination | 154-6 | lld:pubmed |
| pubmed-article:12730697 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:12730697 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:12730697 | pubmed:articleTitle | Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. | lld:pubmed |
| pubmed-article:12730697 | pubmed:affiliation | INSERM U383, Hôpital Necker-Enfants Malades, AP-HP, Université Paris V, 149-161 rue de Sèvres, 75743 Paris Cedex 15, France. | lld:pubmed |
| pubmed-article:12730697 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12730697 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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