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

Atherosclerosis - Tập 223 Số 2 - Trang 394-400 - 2012
Marianne Abifadel1,2, Maryse Guérin3,4,5, Suzanne Benjannet6, Jean‐Pierre Rabès1,7,8, Wilfried Le Goff3,4,5, Zélie Julia3,4,5, Josée Hamelin6, Valérie Carreau9,3,5, Mathilde Varret1, Éric Bruckert9,3,4,5, Laurent Tosolini1, Olivier Meilhac1, Philippe Couvert3,4,10,5, Dominique Bonnefont‐Rousselot11,12, John Chapman3,4,5, Alain Carrié3,4,10,5, Jean‐Baptiste Michel1, Annik Prat6, Nabil G. Seidah6, Cathérine Boileau1,7,8
1Institut National de la Santé et de la Recherche Médicale, Inserm UMR698, Hemostasis, Bio-Engineering and Cardiovascular Remodelling, Hôpital Bichat-Claude Bernard, 46 Rue Henri Huchard, 75877 Paris Cedex 18, France
2Laboratoire de Biochimie, Faculté de Pharmacie et Pôle Technologie-Santé, Université Saint-Joseph, Beirut, Lebanon
3INSERM UMRS939, Hôpital de la Pitié, Paris, France
4Institute of Cardiometabolism and Nutrition, Hôpital de la Pitié, Paris, France
5Université Pierre Et Marie Curie-Paris 6, Paris, France
6Laboratory of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec, H2W 1R7, Canada
7Laboratoire de Biochimie et de Génétique Moléculaire, Hôpital Ambroise-Paré, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
8Université Versailles-Saint-Quentin-en-Yvelines, UFR Médicale Paris-Ile-de-France Ouest, Boulogne, France
9Department of Endocrinology, AP-HP, Hôpital de la Pitié, Paris, France
10Unit of Molecular and Oncologic Endocrinology, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France
11Departement of Metabolic Biochemistry, Groupe hospitalier Pitié-Saplêtrière (AP-HP), Hôpital de la Pitié, Paris, France
12Department of Experimental, Metabolic and Clinical Biology EA4466, Faculty of Pharmacy, Paris Descartes University, Sorbonne Paris Cité, Paris, France

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Tài liệu tham khảo

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