Mayne J, Dewpura T, Raymond A, Bernier L, Cousins M, Ooi TC, Davignon J, Seidah NG, Mbikay M, Chrétien M. Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture. Clin Chem. 2011 Oct 1 ; 57(10):1415-23. Pubmed Abstract