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The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant,c.10580 G>A: p.(Arg3527Gln)
Institution:1. Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan;2. Department of Genomic Medicine, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan;3. Laboratory of Clinical Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan;1. FH Foundation, Pasadena, CA, USA;2. Color Genomics, Burlingame, CA, USA;1. Departamento de Investigación, Facultad de Medicina, Universidad FASTA, Buenos Aires, Argentina;2. Boston Heart Diagnostics, Framingham, MA, USA;3. Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, INFIBIOC-UBA, Buenos Aires, Argentina;4. Departamento de Genética Experimental, Centro Nacional de Genética Médica “Dr Eduardo Castilla”, Administración Nacional de Laboratorios e Institutos de Salud “Dr Carlos Malbrán”, Buenos Aires, Argentina;5. Robarts Research Institute, University Western Ontario, London, Ontario, Canada;1. The State Key Laboratory of Medical Genetics & School of Life Sciences, Central South University, Changsha 410013, China;2. Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, 410011, China;1. Department of Cardiology, Hadassah Hebrew University Medical Center, Jerusalem, Israel Center for Research Prevention and Treatment of Atherosclerosis, Department of Medicine, Hadassah Hebrew University Medical Center, Jerusalem, Israel;2. Center for Research Prevention and Treatment of Atherosclerosis, Department of Medicine, Hadassah Hebrew University Medical Center, Jerusalem, Israel;3. Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Sciences, University College London, 5 University Street, London, WC1E 6JF, UK;4. Internal Medicine Department, Mount Scopus, Hadassah Hebrew University Medical Center, Israel;5. Department of Genetics and Metabolic Diseases, Hadassah Hebrew University Medical Center, Jerusalem, Israel;6. Diabetes and Metabolic Disease Unit, Kaplan Medical Center, Rehovot, Israel;7. Department of Medicine, Wolfson Medical Center, Holon, Israel;8. Department of Cardiology, Soroka University Medical Center, Beer-Sheva, Israel;9. Internal Medicine, Rabin Medical Center, Petah Tikva, Israel;10. Department of Metabolic Clinic, Tel Aviv Medical Center, Tel Aviv, Israel;11. Bert W. Strassburger Lipid Center, The Chaim Sheba Medical Center, Tel Hashomer, Israel;12. Maccabi Health Services, Israel
Abstract:
Keywords:Familial hypercholesterolemia  Japanese  Variant
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