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

Clinical Chemistry

Volumn 57, Issue 10, 2011, Pages 1415-1423

  Mayne, Janice ^a   Dewpura, Thilina ^a   Raymond, Angela ^b   Bernier, Lise ^b   Cousins, Marion ^c   Ooi, Teik Chye ^c   Davignon, Jean ^b   Seidah, Nabil G ^b   Mbikay, Majambu ^d   Chrétien, Michel ^a,d  

^a UNIVERSITY OF OTTAWA   (Canada)

^b CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^c UNIVERSITY OF OTTAWA   (Canada)

^d OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; KEXIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD LEVEL; CANADA; CELL CULTURE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; EX VIVO STUDY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY; FRANCE; GENE SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VIVO STUDY; LOSS OF FUNCTION MUTATION; PHENOTYPE; WILD TYPE;

ADULT; AGED, 80 AND OVER; CELLS, CULTURED; CHOLESTEROL, LDL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; SERINE ENDOPEPTIDASES; YOUNG ADULT;

EID: 80053432726     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2011.165191     Document Type: Article

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