Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

著录项

• 来源
  《Expert Review of Molecular Diagnostics》 |2017年第6期|共3页
• 作者

  Tarailo-Graovac Maja; Wasserman Wyeth W.; Van Karnebeek Clara D. M.;

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• 作者单位

  Univ Belgrade Inst Physiol &

  Biochem Fac Biol Belgrade Serbia;

  Univ British Columbia BC Childrens Hosp Ctr Mol Med &

  Therapeut Res Inst 950 West 28th Ave Room;

  Univ British Columbia BC Childrens Hosp Dept Pediat Ctr Mol Med &

  Therapeut Res Inst Vancouver;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 诊断学;
• 关键词

  Central nervous system; diagnosis; exome; genome sequencing; inborn errors of metabolism; precision medicine;

  机译：中枢神经系统;诊断;exome;基因组测序;原始的新陈代谢误差;精确药;