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Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta |
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| Authors: | Yasemin Alanay Natalia Camacho Koray Boduroglu Mehmet Alikasifoglu Diclehan Orhan Bernard Zabel Leena Bruckner-Tuderman Shawna Pyott David R. Eyre Brendan Lee Elaine C. Davis Nurten Akarsu |
| Affiliation: | 1 Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara 06100, Turkey 2 Gene Mapping Laboratory, Medical Genetics Department Faculty of Medicine, Hacettepe University Medical Faculty, Ankara 06100, Turkey 3 Pediatric Pathology Unit, Hacettepe University Medical Faculty, Ankara 06100, Turkey 4 Department of Pediatrics, Yeditepe University, 34755, Istanbul, Turkey 5 Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA 6 Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA 7 Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA 8 Department of Obstetrics & Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA 9 Centre for Pediatrics and Adolescent Medicine, University of Freiburg, 79106 Freiburg, Germany 10 Department of Dermatology, University of Freiburg, 79106 Freiburg, Germany 11 Genetic Medicine, Central California, Fresno, CA 93710, USA 12 Department of Pathology, University of Washington, Seattle, WA 98195, USA 13 Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA 14 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA 15 Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A 2B2, Canada 16 Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA |
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