Abstract | OBJECTIVES: METHODS AND RESULTS: CONCLUSIONS: We discovered a novel inactivating mutation as well as some rare nonconservative amino acid substitutions of PCSK9 in white hypocholesterolemic individuals.
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Authors | Tommaso Fasano, Angelo B Cefalù, Enza Di Leo, Davide Noto, Daniela Pollaccia, Letizia Bocchi, Vincenza Valenti, Renato Bonardi, Ornella Guardamagna, Maurizio Averna, Patrizia Tarugi |
Journal | Arteriosclerosis, thrombosis, and vascular biology
(Arterioscler Thromb Vasc Biol)
Vol. 27
Issue 3
Pg. 677-81
(Mar 2007)
ISSN: 1524-4636 [Electronic] United States |
PMID | 17170371
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Cholesterol, LDL
- Codon, Nonsense
- PCSK9 protein, human
- Proprotein Convertase 9
- Proprotein Convertases
- Serine Endopeptidases
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Topics |
- Adult
- Case-Control Studies
- Cholesterol, LDL
(blood, genetics)
- Codon, Nonsense
- Female
- Gene Frequency
- Genetic Predisposition to Disease
(epidemiology)
- Humans
- Hypobetalipoproteinemias
(ethnology, genetics)
- Incidence
- Male
- Polymorphism, Single Nucleotide
- Proprotein Convertase 9
- Proprotein Convertases
- Risk Assessment
- Sensitivity and Specificity
- Serine Endopeptidases
(genetics)
- Statistics, Nonparametric
- White People
(genetics)
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