共 88 条
[1]
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
[J].
Abifadel, M
;
Varret, M
;
Rabès, JP
;
Allard, D
;
Ouguerram, K
;
Devillers, M
;
Cruaud, C
;
Benjannet, S
;
Wickham, L
;
Erlich, D
;
Derré, A
;
Villéger, L
;
Farnier, M
;
Beucler, I
;
Bruckert, E
;
Chambaz, J
;
Chanu, B
;
Lecerf, JM
;
Luc, G
;
Moulin, P
;
Weissenbach, J
;
Prat, A
;
Krempf, M
;
Junien, C
;
Seidah, NG
;
Boileau, C
.
NATURE GENETICS,
2003, 34 (02)
:154-156

Abifadel, M
论文数: 0 引用数: 0
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机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Varret, M
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Rabès, JP
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Allard, D
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Ouguerram, K
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机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Devillers, M
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Cruaud, C
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Benjannet, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Wickham, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Erlich, D
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机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Derré, A
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Villéger, L
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机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Farnier, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Beucler, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Bruckert, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Chambaz, J
论文数: 0 引用数: 0
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机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Chanu, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Lecerf, JM
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Luc, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Moulin, P
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Weissenbach, J
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Prat, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Krempf, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Junien, C
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h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Seidah, NG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Boileau, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France
[2]
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia
[J].
Abifadel, Marianne
;
Guerin, Maryse
;
Benjannet, Suzanne
;
Rabes, Jean-Pierre
;
Le Goff, Wilfried
;
Julia, Zelie
;
Hamelin, Josee
;
Carreau, Valerie
;
Varret, Mathilde
;
Bruckert, Eric
;
Tosolini, Laurent
;
Meilhac, Olivier
;
Couvert, Philippe
;
Bonnefont-Rousselot, Dominique
;
Chapman, John
;
Carrie, Alain
;
Michel, Jean-Baptiste
;
Prat, Annik
;
Seidah, Nabil G.
;
Boileau, Catherine
.
ATHEROSCLEROSIS,
2012, 223 (02)
:394-400

Abifadel, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France
Univ St Joseph, Biochim Lab, Fac Pharm & Pole Technol Sante, Beirut, Lebanon Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

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Benjannet, Suzanne
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Rabes, Jean-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France
Hop Ambroise Pare, AP HP, Lab Biochim & Genet Mol, Paris, France
Univ Versailles St Quentin En Yvelines, UFR Med Paris Ile de France Ouest, Boulogne, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Le Goff, Wilfried
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Pitie, INSERM, UMRS939, F-75651 Paris, France
Univ Paris 06, Paris, France
Hop Pitie, Inst Cardiometab & Nutr, F-75651 Paris, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Julia, Zelie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Pitie, INSERM, UMRS939, F-75651 Paris, France
Univ Paris 06, Paris, France
Hop Pitie, Inst Cardiometab & Nutr, F-75651 Paris, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Hamelin, Josee
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h-index: 0
机构:
Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Carreau, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Pitie, INSERM, UMRS939, F-75651 Paris, France
Univ Paris 06, Paris, France
Hop Pitie, AP HP, Dept Endocrinol, F-75651 Paris, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Varret, Mathilde
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h-index: 0
机构:
Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

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Tosolini, Laurent
论文数: 0 引用数: 0
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机构:
Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Meilhac, Olivier
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h-index: 0
机构:
Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

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Bonnefont-Rousselot, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Pitie, AP HP, Grp Hosp Pitie Salpetriere, Dept Metab Biochem, F-75651 Paris, France
Paris Descartes Univ, Dept Expt Metab & Clin Biol, EA4466, Fac Pharm, Paris, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Chapman, John
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Pitie, INSERM, UMRS939, F-75651 Paris, France
Univ Paris 06, Paris, France
Hop Pitie, Inst Cardiometab & Nutr, F-75651 Paris, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Carrie, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Pitie, INSERM, UMRS939, F-75651 Paris, France
Univ Paris 06, Paris, France
Hop Pitie, Inst Cardiometab & Nutr, F-75651 Paris, France
Hop La Pitie Salpetriere, AP HP, Unit Mol & Oncol Endocrinol, Paris, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Michel, Jean-Baptiste
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Prat, Annik
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Seidah, Nabil G.
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France

Boileau, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France
Hop Ambroise Pare, AP HP, Lab Biochim & Genet Mol, Paris, France
Univ Versailles St Quentin En Yvelines, UFR Med Paris Ile de France Ouest, Boulogne, France Hop Bichat Claude Bernard, Inst Natl Sante & Rech Med, INSERM, Hemostasis Bioengn & Cardiovasc Remodelling UMR 6, F-75877 Paris 18, France
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[Anonymous], 2017, WHO fact sheet
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2016 ESC/EAS Guidelines for the Management of Dyslipidaemias The Task Force for the Management of Dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS) Developed with the special contribution of the European Association for Cardiovascular Prevention & Rehabilitation (EACPR)
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Catapano, Alberico L.
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Jennings, Catriona S.
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Catapano, Alberico L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy
Multimed IRCCS, Sesto San Giovanni, MI, Italy Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Graham, Ian
论文数: 0 引用数: 0
h-index: 0
机构:
Hermitage Med Clin, Cardiol Dept, Suite 36,Old Lucan Rd, Dublin 20, Ireland Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

De Backer, Guy
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Wiklund, Olov
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Chapman, M. John
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Drexel, Heinz
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Hoes, Arno W.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Jennings, Catriona S.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Landmesser, Ulf
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Pedersen, Terje R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Reiner, Zeljko
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Riccardi, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Taskinen, Marja-Riita
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Tokgozoglu, Lale
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Verschuren, W. M. Monique
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Vlachopoulos, Charalambos
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Wood, David A.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy

Luis Zamorano, Jose
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Dept Pharmacol & Biomol Sci, Via Balzaretti 9, I-20133 Milan, Italy
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机构: Clin Trial Serv Unit, Oxford OX3 7LF, England

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Univ Sydney, Natl Hlth & Med Res Council NHMRC Clin Trial Ctr, Sydney, NSW 2006, Australia Clin Trial Serv Unit, Oxford OX3 7LF, England

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Univ Sydney, Natl Hlth & Med Res Council NHMRC Clin Trial Ctr, Sydney, NSW 2006, Australia Clin Trial Serv Unit, Oxford OX3 7LF, England

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Univ Calif Davis, Sacramento, CA 95817 USA Univ Calif Davis, Sacramento, CA 95817 USA

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Univ Washington, Seattle, WA 98195 USA Univ Calif Davis, Sacramento, CA 95817 USA

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Washington Univ, Sch Med, St Louis, MO 63110 USA Univ Calif Davis, Sacramento, CA 95817 USA

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Columbia Univ, New York, NY 10027 USA Univ Calif Davis, Sacramento, CA 95817 USA

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Harvard Univ, Sch Publ Hlth, Boston, MA 02115 USA Univ Calif Davis, Sacramento, CA 95817 USA

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Mayo Clin, Rochester, MN 55905 USA Univ Calif Davis, Sacramento, CA 95817 USA

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Radboud Univ Nijmegen, Med Ctr, NL-6525 GA Nijmegen, Netherlands Univ Calif Davis, Sacramento, CA 95817 USA
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Boekholdt, S. Matthijs
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h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Cardiol, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Arsenault, Benoit J.
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h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Mora, Samia
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Brigham & Womens Hosp, Ctr Cardiovasc Dis Prevent, Boston, MA 02115 USA Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Pedersen, Terje R.
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Oslo Univ Hosp, Ctr Prevent Med, Ulleval, Norway
Univ Oslo, N-0316 Oslo, Norway Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

LaRosa, John C.
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SUNY Hlth Sci Ctr, Brooklyn, NY 11203 USA Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Nestel, Paul J.
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Baker Heart & Diabet Res Inst, Melbourne, Vic, Australia Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Simes, R. John
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Univ Sydney, NHMRC Clin Trials Ctr, Sydney, NSW 2006, Australia Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Durrington, Paul
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Univ Manchester, Sch Biomed, Manchester, Lancs, England Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Hitman, Graham A.
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Queen Mary Univ London, Barts & London Sch Med & Dent, Ctr Diabet & Metab Med, London, England Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Welch, K. M. A.
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Rosalind Franklin Univ Med & Sci, N Chicago, IL USA Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

DeMicco, David A.
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Global Pharmaceut Pfizer, New York, NY USA Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Zwinderman, Aeilko H.
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Univ Amsterdam, Acad Med Ctr, Dept Clin Epidemiol & Biostat, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Clearfield, Michael B.
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Touro Univ, Mare Isl, CA USA Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Downs, John R.
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Univ Texas Hlth Sci Ctr San Antonio, Dept Med, San Antonio, TX 78229 USA
S Texas Vet Hlth Care Syst, VERDICT, San Antonio, TX USA Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Tonkin, Andrew M.
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Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic 3004, Australia Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Colhoun, Helen M.
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Univ Dundee, Med Res Inst, Dundee, Scotland Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Gotto, Antonio M., Jr.
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Weill Cornell Med Coll, New York, NY USA Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Ridker, Paul M.
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Brigham & Womens Hosp, Ctr Cardiovasc Dis Prevent, Boston, MA 02115 USA Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

Kastelein, John J. P.
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Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands
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