Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France

Journal of Lipid Research

Volumn 57, Issue 3, 2016, Pages 482-491

  Wintjens, René ^a   Bozon, Dominique ^b   Belabbas, Khaldia ^c   Bou, Félicien M ^d   Girardet, Jean Philippe ^e   Tounian, Patrick ^e   Jolly, Mathilde ^f   Boccara, Franck ^c   Cohen, Ariel ^c   Karsenty, Alexandra ^e   Dubern, Béatrice ^e   Carel, Jean Claude ^g,h   Azar Kolakez, Ahlam ^g,h   Feillet, François ^i,j   Labarthe, François ^k   Gorsky, Anne Marie Colin ^l   Horovitz, Alice ^m   Tamarindi, Catherine ⁿ   Kieffer, Pierre ^o   Lienhardt, Anne ^p   Lascols, Olivier ^c   Di Filippo, Mathilde ^b,q   Dufernez, Fabienne ^c   more..

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b HOSPICES CIVILS DE LYON   (France)

^c HÔPITAL SAINT ANTOINE   (France)

^d CHU du Lamentin   (Martinique)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f Service d'Endocrinologie   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ CHU NANCY BRABOIS   (France)

^j UNIVERSITÉ DE LORRAINE   (France)

^k Centre de Pediatrie Clocheville   (France)

^l CENTRE HOSPITALIER VICTOR DUPOUY   (France)

^m BORDEAUX UNIVERSITY HOSPITAL   (France)

ⁿ Service de Maternité   (France)

^o Hôpitaux Universitaires de Strasbourg   (France)

^p Hôpital Mère enfants   (France)

^q UNIVERSITÉ DE LYON   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN E; LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR PROTEIN, HUMAN; PCSK9 PROTEIN, HUMAN; PROPROTEIN CONVERTASE 9;

ADULT; APOLIPOPROTEIN B GENE; APOLIPOPROTEIN E GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FRENCHMAN; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC BACKGROUND; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9 GENE; SCHOOL CHILD; SPLICING DEFECT; YOUNG ADULT; ALPHA HELIX; CHEMISTRY; COHORT ANALYSIS; EXON; FRANCE; GENETICS; GENOTYPING TECHNIQUE; HYPERLIPOPROTEINEMIA TYPE II; MOLECULAR MODEL; MUTATION; PHENOTYPE;

ADULT; APOLIPOPROTEINS B; APOLIPOPROTEINS E; CHILD; COHORT STUDIES; EXONS; FEMALE; FRANCE; GENOTYPING TECHNIQUES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROPROTEIN CONVERTASE 9; PROTEIN CONFORMATION, ALPHA-HELICAL; RECEPTORS, LDL; YOUNG ADULT;

EID: 84963804076     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.P055699     Document Type: Article

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