Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation

Human Mutation

Volumn 34, Issue 1, 2013, Pages 83-87

  Marduel, Marie ^a,b   Ouguerram, Khadija ^c   Serre, Valérie ^a,b   Bonnefont Rousselot, Dominique ^b,d,e   Marques Pinheiro, Alice ^a   Erik Berge, Knut ^f   Devillers, Martine ^a   Luc, Gérald ^g,h   Lecerf, Jean Michel ^h   Tosolini, Laurent ^a   Erlich, Danièle ^b   Peloso, Gina M ⁱ   Stitziel, Nathan ⁱ   Nitchké, Patrick ^b,j   Jaïs, Jean Philippe ^b,j   Abifadel, Marianne ^a,k   Kathiresan, Sekar ⁱ   Leren, Trond Paul ^f   Rabès, Jean Pierre ^a,l,m   Boileau, Catherine ^a,l,m   Varret, Mathilde ^a,b   more..

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITÉ DE NANTES   (France)

^d EA 4466   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f OSLO UNIVERSITY HOSPITAL   (Norway)

^g UNIV LILLE   (France)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k SAINT JOSEPH UNIVERSITY   (Lebanon)

^l HÔPITAL AMBROISE PARÉ   (France)

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

more..

Author keywords

ADH; APOE; Apolipoprotein E; Hypercholesterolemia; LDL

Indexed keywords

APOLIPOPROTEIN E; LOW DENSITY LIPOPROTEIN;

APOB GENE; APOLIPOPROTEIN E GENE; ARTICLE; AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA; FAMILIAL HYPERCHOLESTEROLEMIA; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LDLR GENE; PCSK9 GENE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; APOLIPOPROTEINS E; CHILD; CHOLESTEROL; CHOLESTEROL, HDL; CHOLESTEROL, LDL; CHROMOSOMES, HUMAN, PAIR 19; FAMILY HEALTH; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; TRIGLYCERIDES; YOUNG ADULT;

EID: 84871609958     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22215     Document Type: Article

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