Associated Papers
New Loss-of-Function Mutations in PCSK9 Reduce Plasma LDL Cholesterol.
Meng FH et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
37165876 (PubMed )
Supplement: atvb_atvb-2022-318839d_supp1.pdf
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf
Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.
Sorrentino V et al.
European Heart Journal, 2013
The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans.
Weissglas-Volkov D et al.
The Journal of Clinical Investigation, 2011
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.
Shatunov A et al.
Brain : a Journal of Neurology, 2006
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