Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote
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- 1 September 2006
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 79 (3), 514-523
- https://doi.org/10.1086/507488
Abstract
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This publication has 28 references indexed in Scilit:
- Sequence Variations inPCSK9,Low LDL, and Protection against Coronary Heart DiseaseThe New England Journal of Medicine, 2006
- Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9Proceedings of the National Academy of Sciences of the United States of America, 2005
- Apolipoprotein B100 Metabolism in Autosomal-Dominant Hypercholesterolemia Related to Mutations inPCSK9Arteriosclerosis, Thrombosis, and Vascular Biology, 2004
- Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotypeProceedings of the National Academy of Sciences of the United States of America, 2004
- Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamicsNature Reviews Molecular Cell Biology, 2004
- Crystal Structure of Fervidolysin from Fervidobacterium pennivorans, a Keratinolytic Enzyme Related to SubtilisinJournal of Molecular Biology, 2004
- Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genesProceedings of the National Academy of Sciences of the United States of America, 2003
- Mutations in PCSK9 cause autosomal dominant hypercholesterolemiaNature Genetics, 2003
- The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiationProceedings of the National Academy of Sciences of the United States of America, 2003
- Gapped BLAST and PSI-BLAST: a new generation of protein database search programsNucleic Acids Research, 1997