Concepedia

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

Jonathan C. Cohen, Alexander Pertsemlidis, Ingrid K. Kotowski, Randall B. Graham, Christine Kim Garcia, Helen H. Hobbs

Nature Genetics · 2005 · 1.4K citations · 22 references

DOI

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References

22

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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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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Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes

Jay D. Horton, Nila Shah, Janet A. Warrington et al. · Proceedings of the National Academy of Sciences · 2003 · 1.4K citations · Full text

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The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation

Nabil G. Seidah, Suzanne Benjannet, L. Alexandra Wickham et al. · Proceedings of the National Academy of Sciences · 2003 · 1.2K citations · Full text

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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

Jonathan C. Cohen, Robert S. Kiss, Alexander Pertsemlidis et al. · Science · 2004 · 1.1K citations

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