Concepedia

A Novel Loss of Function Mutation of <i>PCSK9</i> Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

Tommaso Fasano, Angelo B. Cefalù, Enza Di Leo, Davide Noto, Daniela Pollaccia, Letizia Bocchi, Vincenza Valenti, R Bonardi, Ornella Guardamagna, Maurizio Averna,

Arteriosclerosis Thrombosis and Vascular Biology · 2006 · 125 citations · 24 references

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Abstract

We discovered a novel inactivating mutation as well as some rare nonconservative amino acid substitutions of PCSK9 in white hypocholesterolemic individuals.

References

24

Sequence Variations in <i>PCSK9,</i> Low LDL, and Protection against Coronary Heart Disease

Jonathan C. Cohen, Eric Boerwinkle, Thomas H. Mosley et al. · New England Journal of Medicine · 2006 · 3.1K citations · Full text

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

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Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.

D.T. Vernier · Journal of Lipid Research · 1990 · 2.9K citations · Full text

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

Jonathan C. Cohen, Alexander Pertsemlidis, Ingrid K. Kotowski et al. · Nature Genetics · 2005 · 1.4K citations

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Decreased plasma cholesterol and hypersensitivity to statins in mice lacking <i>Pcsk9</i>

Shirya Rashid, David E. Curtis, Rita Garuti et al. · Proceedings of the National Academy of Sciences · 2005 · 672 citations · Full text