Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

Atherosclerosis

Volumn 223, Issue 2, 2012, Pages 394-400

  Abifadel, Marianne ^a,b   Guerin, Maryse ^c,d   Benjannet, Suzanne ^e   Rabès, Jean Pierre ^a,f,g   Le Goff, Wilfried ^c,d   Julia, Zélie ^c,d   Hamelin, Josée ^e   Carreau, Valérie ^c,d   Varret, Mathilde ^a   Bruckert, Eric ^c,d   Tosolini, Laurent ^a   Meilhac, Olivier ^a   Couvert, Philippe ^c,d   Bonnefont Rousselot, Dominique ^c,h   Chapman, John ^c,d   Carrié, Alain ^c,d   Michel, Jean Baptiste ^a   Prat, Annik ^e   Seidah, Nabil G ^e   Boileau, Catherine ^a,f,g  

^a BICHAT HOSPITAL   (France)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^f HÔPITAL AMBROISE PARÉ   (France)

^g LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^h UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Familial hypercholesterolemia; LDL C; Mutations; PCSK9

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR; TYROSINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL CULTURE; CHILD; CHOLESTEROL METABOLISM; GAIN OF FUNCTION MUTATION; GENE; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; IN VITRO STUDY; MAJOR CLINICAL STUDY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROPROTEIN CONVERTASE SUBTILISIN KEXIN 9 GENE; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SULFATION;

APOLIPOPROTEINS B; BIOLOGICAL MARKERS; CHOLESTEROL, HDL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HEP G2 CELLS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MUTATION; PARIS; PEDIGREE; PHENOTYPE; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES; TRANSFECTION;

EID: 84864770647     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2012.04.006     Document Type: Article

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