Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome

著录项

• 来源
  《Proceedings of the National Academy of Sciences of the United States of America》 |2010年第7期|3024-3029|共6页
• 作者

  Francesca Rucci; Luigi D. Notarangelo; Alex Fazeli; Laura Patrizi; Thomas Hickernell; Tiziana Paganini; Kristen M. Coakley; Cynthia Detre; Marton Keszei; Jolan E. Walter; Lauren Feldman; Hwei-Ling Cheng; Pietro Luigi Poliani; Jing H. Wang; Barbara B. Balter; Mike Recher; Emma-Maria Andersson; Shan Zha; Silvia Giliani; Cox Terhorst; Frederick W. Alt; Catherine T. Yan;

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• 作者单位

  Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115;

  rnDivision of Immunology and Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115;

  rnImmune Disease Institute, Harvard Medical School, Boston, MA 02115;

  rnDivision of Immunology and Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115;

  rnImmune Disease Institute, Harvard Medical School, Boston, MA 02115;

  rn'Angelo Nocivelli' Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Brescia 25123, Italy;

  rnImmune Disease Institute, Harvard Medical School, Boston, MA 02115;

  rnDivision of Immunology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115;

  rnDivision of Immunology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115;

  rnDivision of Immunology and Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115;

  rnDivision of Experimental Pathology,Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215;

  rnImmune Disease Institute, Harvard Medical School, Boston, MA 02115;

  rnDepartment of Pathology, University of Brescia, Brescia 25123, Italy;

  rnImmune Disease Institute, Harvard Medical School, Boston, MA 02115;

  rnDivision of Immunology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115;

  rnDivision of Immunology and Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115;

  rnDivision of Immunology and Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115;

  rnImmune Disease Institute, Harvard Medical School, Boston, MA 02115;

  rn'Angelo Nocivelli' Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Brescia 25123, Italy;

  Division of Immunology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115;

  rnImmune Disease Institute, Harvard Medical School, Boston, MA 02115;

  rnImmune Disease Institute, Harvard Medical School, Boston, MA 02115;

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• 收录信息 美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
• 原文格式 PDF
• 正文语种 eng
• 中图分类
• 关键词

  genomic instability; immunodeficiency; lymphocytes; nonhomologous end joining; immune dysregulation;

  机译：基因组不稳定免疫缺陷;淋巴细胞非同源末端连接;免疫失调;