A HOMOZYGOUS SPLICE SITE VARIANT IN TAF8 CAUSES INTELLECTUAL DISABILITY, BRAIN ABNORMALITIES AND IN VITRO EVIDENCE OF ABSENT TAF8 WITH ALTERATIONS IN THE TFIID COMPLEX

著录项

• 来源
  《American journal of medical genetics, Part A》 |2018年第6期|共1页
• 作者

  Curry Cynthia J.; Furqan Aisha; Fisher Jamie; Dobyns W. B.; El Saafin Farrah; Devys Didier; Berger Imre; Tora Laszlo;

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• 作者单位

  UCSF Fresno CA USA;

  Community Reg Med Ctr Fresno CA USA;

  Community Reg Med Ctr Fresno CA USA;

  Univ Washington Seattle WA 98195 USA;

  Inst Genet &

  Biol Mol &

  Cellulaire Strasbourg France;

  Inst Genet &

  Biol Mol &

  Cellulaire Strasbourg France;

  Univ Bristol Bristol Avon England;

  Inst Genet &

  Biol Mol &

  Cellulaire Strasbourg France;

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