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Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia
Affiliation:1. Laboratory of Clinical Genetics, National Cerebral and Cardiovascular Center, Suita, Japan;2. Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan;3. Omics Research Center, National Cerebral and Cardiovascular Center, Suita, Japan;4. Division of Endocrinology and Metabolism, National Cerebral and Cardiovascular Center, Suita, Japan;5. Department of Preventive Cardiology, National Cerebral and Cardiovascular Center, Suita, Japan;1. Hormonal and Metabolic Disorders Research Unit, Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand;2. Department of Medicine, Excellence Center for Diabetes, Hormone, and Metabolism, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand;1. Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK;2. Randox Laboratories Ltd., Crumlin, Northern Ireland, UK;3. Centre for Public Health, Queens University, Belfast, Northern Ireland, UK;1. Department of Atherosclerosis, Beijing Anzhen Hospital, Capital Medical University, The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China;2. Department of Dermatology, Beijing Anzhen Hospital, Affiliated to Capital Medical University, Beijing, China;3. University of South China, Hengyang, China;4. Department of Biochemistry and Molecular Biology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;5. The Affiliated Hospital of North China University of Science and Technology, North China University of Science and Technology, Tangshan, Hebei Province, China;1. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa;2. Department of Vascular Medicine, Academisch Medisch Centrum, Amsterdam, Netherlands;3. Division of Lipidology, Department of Medicine, University of Cape Town, Cape Town, South Africa;4. Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital and Preventive Medicine Center and Cardiology Program, Hospital Israelita Albert Einstein, Sao Paulo, Brazil;5. Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan;6. Hôspital Pitié Salpêtrière, Assistance-Publique Hôpitaux de Paris, Paris, France;7. Centre Hospitalier Universitaire de Québec, Quebec City, QC, Canada;8. Cardiovascular Trials Unit, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK;9. Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia;10. Amgen, Thousand Oaks, CA, USA;11. Metabolic and Atherosclerosis Research Center, Cincinnati, OH, USA;1. Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children''s Hospital, UMC Ljubljana, Ljubljana, Slovenia;2. Unit of Special Laboratory Diagnostics, University Children''s Hospital, UMC Ljubljana, Ljubljana, Slovenia;3. Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia;4. Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
Abstract:
Keywords:LDL receptor  Variant  Familial hypercholesterolemia  Mutation
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