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An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue.
Tabeta, Koichi; Du, Xin; Arimatsu, Kei; Yokoji, Mai; Takahashi, Naoki; Amizuka, Norio; Hasegawa, Tomoka; Crozat, Karine; Maekawa, Tomoki; Miyauchi, Sayuri; Matsuda, Yumi; Ida, Takako; Kaku, Masaru; Hoebe, Kasper; Ohno, Kinji; Yoshie, Hiromasa; Yamazaki, Kazuhisa; Moresco, Eva Marie Y; Beutler, Bruce.
Afiliação
  • Tabeta K; 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.
  • Du X; 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.
  • Arimatsu K; Division of Medical Genetics, Department of Medicine, University of California San Diego, La Jolla, California, United States of America.
  • Yokoji M; Division of Periodontology, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan.
  • Takahashi N; Division of Periodontology, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan.
  • Amizuka N; Research Center for Advanced Oral Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Hasegawa T; Department of Developmental Biology of Hard Tissue, Graduate School of Dental Medicine, Hokkaido University, Sapporo, Japan.
  • Crozat K; Department of Developmental Biology of Hard Tissue, Graduate School of Dental Medicine, Hokkaido University, Sapporo, Japan.
  • Maekawa T; Centre d'Immunologie de Marseille-Luminy, Aix Marseille Université, INSERM, CNRS, 13288, Marseille, France.
  • Miyauchi S; Research Center for Advanced Oral Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Matsuda Y; Division of Periodontology, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan.
  • Ida T; Division of Periodontology, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan.
  • Kaku M; Division of Bio-Prosthodontics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Hoebe K; Division of Bio-Prosthodontics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Ohno K; Division of Immunobiology, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, United States of America.
  • Yoshie H; Division of Neurogenetics, Center for Neurological Diseases and Cancer Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Yamazaki K; Division of Periodontology, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan.
  • Moresco EMY; Laboratory of Periodontology and Immunology, Department of Oral Health and Welfare, Faculty of Dentistry, Niigata University, Niigata, Japan.
  • Beutler B; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America.
Sci Rep ; 7(1): 11717, 2017 09 15.
Article em En | MEDLINE | ID: mdl-28916811
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article