Associated Papers
Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.
Benito-Vicente A et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2022
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.
Rusch M et al.
Nature Communications, 2018
30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM9_ESM.xlsx › 6B.EXONIC_INDEL_VALIDATION
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Dron JS et al.
Current Opinion in Lipidology, 2017
PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk.
Slimani A et al.
Molecular and Cellular Probes, 2015
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD et al.
Human Mutation, 2009
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