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Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing
Affiliation:1. Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan (Drs Hori and Harada-Shiba);2. Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, Japan (Dr Hori);3. Department of Endocrinology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan (Dr Hori);4. Department of Genomic Medicine, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan (Dr Takahashi);5. Laboratory of Clinical Genetics, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan (Dr Hosoda);6. Department of Diabetes and Lipid Metabolism, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan (Dr Hosoda);1. Department of Medicine, Queen Elizabeth Hospital, Hong Kong SAR, China;2. Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, China;1. Department of Nephrology, Rheumatology, Endocrinology, and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan (Drs Kurooka, Eguchi, Yamaguchi, Nojima, Nakatsuka, Wada);2. Kurashiki Central Hospital (Ohara Health Care Foundation), Department of Diabetology, Kurashiki, Japan (Drs Murakami, Kamei);3. Kurashiki Central Hospital Preventive Healthcare Plaza, Kurashiki, Japan (Dr Kikutsuji);4. Okayama Southern Institute of Health, Okayama, Japan (Drs Sasaki, Seki);5. Department of Primary Care and Medical Education, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan (Dr Watanabe);6. Health Service Center, Okayama University, Okayama, Japan (Dr Higuchi);7. Department of Diabetology and Metabolism, National Hospital Organization Okayama Medical Center, Okayama, Japan (Dr Katayama);8. Department of Chronic Kidney Disease and Cardiovascular Disease, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan (Dr Uchida);9. Center for Innovative Clinical Medicine, Okayama University Hospital, Okayama, Japan (Dr Shikata);1. Department of Surgery, Hinchingbrooke Hospital, Huntingdon, PE29 6NT, UK;2. Lysosomal Disorders Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK;1. Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada;2. Department of Pathology and Laboratory Medicine; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada;3. Department of Biochemistry and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada;1. Division of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center, Columbus, OH;2. Division of Cardiology, Medical University of South Carolina, Charleston, SC;3. Division of Endocrinology, Diabetes and Metabolism, University of Florida College of Medicine, Gainesville, FL;4. Division of Endocrinology, Metabolism, and Nutrition, Department of Medicine, Duke University Medical Center, Durham, NC
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