An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue.

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第一作者： Koichi,Tabeta

第一单位： Division of Periodontology, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan. koichi@dent.niigata-u.ac.jp.

作者： Koichi,Tabeta ^[1] ; Xin,Du ^[2] ; Kei,Arimatsu ^[3] ; Mai,Yokoji ^[4] ; Naoki,Takahashi ^[4] ; Norio,Amizuka ^[5] ; Tomoka,Hasegawa ^[6] ; Karine,Crozat ^[6] ; Tomoki,Maekawa ^[7] ; Sayuri,Miyauchi ^[5] ; Yumi,Matsuda ^[4] ; Takako,Ida ^[4] ; Masaru,Kaku ^[8] ; Kasper,Hoebe ^[8] ; Kinji,Ohno ^[9] ; Hiromasa,Yoshie ^[10] ; Kazuhisa,Yamazaki ^[4] ; Eva Marie Y,Moresco ^[11] ; Bruce,Beutler ^[12]

作者单位： Division of Periodontology, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan. koichi@dent.niigata-u.ac.jp. ^[1] Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America. koichi@dent.niigata-u.ac.jp. ^[2] Division of Medical Genetics, Department of Medicine, University of California San Diego, La Jolla, California, United States of America. ^[3] Division of Periodontology, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan. ^[4] Research Center for Advanced Oral Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. ^[5] Department of Developmental Biology of Hard Tissue, Graduate School of Dental Medicine, Hokkaido University, Sapporo, Japan. ^[6] Centre d'Immunologie de Marseille-Luminy, Aix Marseille Université, INSERM, CNRS, 13288, Marseille, France. ^[7] Division of Bio-Prosthodontics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. ^[8] Division of Immunobiology, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, United States of America. ^[9] Division of Neurogenetics, Center for Neurological Diseases and Cancer Nagoya University Graduate School of Medicine, Nagoya, Japan. ^[10] Laboratory of Periodontology and Immunology, Department of Oral Health and Welfare, Faculty of Dentistry, Niigata University, Niigata, Japan. ^[11] Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America. ^[12] Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America. Bruce.Beutler@UTSouthwestern.edu. ^[13]