A recurrent de novo missense mutation in UBTF causes developmental neuroregression (vol 27, pg 691, 2018)

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• 来源
  《Human Molecular Genetics》 |2018年第7期|共1页
• 作者

  Toro Camilo; Hori Roderick T.; Malicdan May Christine V.; Tifft Cynthia J.; Goldstein Amy; Gahl William A.; Adams David R.; Fauni Harper B.; Wolfe Lynne A.; Xiao Jianfeng; Khan Mohammad M.; Tian Jun; Hope Kevin A.; Reiter Lawrence T.; Tremblay Michel G.; Moss Tom; Franks Alexis L.; Balak Chris; LeDoux Mark S.;

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• 作者单位

  NHGRI Undiagnosed Dis Program NIH Bethesda MD 20892 USA;

  Univ Tennessee Ctr Hlth Sci Dept Microbiol Immunol &

  Biochem Memphis TN 38163 USA;

  NHGRI Undiagnosed Dis Program NIH Bethesda MD 20892 USA;

  NHGRI Undiagnosed Dis Program NIH Bethesda MD 20892 USA;

  Childrens Hosp Pittsburgh Dept Pediat Div Child Neurol Pittsburgh PA 15213 USA;

  NHGRI Undiagnosed Dis Program NIH Bethesda MD 20892 USA;

  NHGRI Undiagnosed Dis Program NIH Bethesda MD 20892 USA;

  NHGRI Undiagnosed Dis Program NIH Bethesda MD 20892 USA;

  NHGRI Undiagnosed Dis Program NIH Bethesda MD 20892 USA;

  Univ Tennessee Ctr Hlth Sci Dept Neurol 855 Monroe Ave Suite 415 Link Bldg Memphis TN 38163 USA;

  Univ Tennessee Ctr Hlth Sci Dept Neurol 855 Monroe Ave Suite 415 Link Bldg Memphis TN 38163 USA;

  Univ Tennessee Ctr Hlth Sci Dept Neurol 855 Monroe Ave Suite 415 Link Bldg Memphis TN 38163 USA;

  Univ Tennessee Ctr Hlth Sci Integrated Program Biol Sci Memphis TN 38163 USA;

  Univ Tennessee Ctr Hlth Sci Dept Neurol 855 Monroe Ave Suite 415 Link Bldg Memphis TN 38163 USA;

  Quebec Univ Hosp Res Ctr Lab Growth &

  Dev St Patrick Res Grp Basic Oncol Canc Div Quebec City;

  Quebec Univ Hosp Res Ctr Lab Growth &

  Dev St Patrick Res Grp Basic Oncol Canc Div Quebec City;

  Translat Genom Res Inst TGen Ctr Rare Childhood Disorders C4RCD Phoenix AZ USA;

  Univ Tennessee Ctr Hlth Sci Dept Neurol 855 Monroe Ave Suite 415 Link Bldg Memphis TN 38163 USA;

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• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学遗传学;
• 关键词