A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

• Masaki Takagi,

  Affiliations Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan

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• Tomohiro Ishii,

  Affiliation Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

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• Aileen M. Barnes,

  Affiliation Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland, United States of America

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• MaryAnn Weis,

  Affiliation Orthopaedic Research Laboratories, University of Washington, Seattle, Washington, United States of America

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• Naoko Amano,

  Affiliation Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

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• Mamoru Tanaka,

  Affiliation Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan

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• Ryuji Fukuzawa,

  Affiliation Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan

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• Gen Nishimura,

  Affiliation Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan

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• David R. Eyre,

  Affiliation Orthopaedic Research Laboratories, University of Washington, Seattle, Washington, United States of America

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• Joan C. Marini,

  Affiliation Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland, United States of America

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• Tomonobu Hasegawa

  * E-mail: thaseg@a6.keio.jp

  Affiliation Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

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