SPECIFICATION OF ACMG/AMP GUIDELINES FOR VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA

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• 来源
  《Atherosclerosis》 |2019年第2019期|共1页
• 作者

  Chora J. R.; Iacocca M. A.; Carrie A.; Leigh S. E.; Tichy L.; Kurtz C. L.; Freiberger T.; Sijbrands E. J.; Hegele R. A.; Knowles J. W.; Bourbon M.;

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• 作者单位

  Inst Nacl Saude Doutor Ricardo Jorge Dept Promocao Saude &

  Prevencao Doencas Nao Trans Lisbon;

  Western Univ Robarts Res Inst London ON Canada;

  Hop Univ Pitie Salpetriere Charles Foix Mol &

  Chromosomal Genet Ctr Obes &

  Dyslipidemia Genet;

  Queen Mary Univ London Genom England London England;

  Univ Hosp Brno Ctr Mol Biol &

  Gene Therapy Brno Czech Republic;

  Univ N Carolina Dept Genet Chapel Hill NC 27515 USA;

  Ctr Cardiovasc Surg &

  Transplantat Mol Genet Lab Brno Czech Republic;

  Erasmus MC Dept Internal Med Rotterdam Netherlands;

  Western Univ Robarts Res Inst London ON Canada;

  Stanford Univ Ctr Inherited Cardiovasc Dis Palo Alto CA 94304 USA;

  Inst Nacl Saude Doutor Ricardo Jorge Dept Promocao Saude &

  Prevencao Doencas Nao Trans Lisbon;

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• 原文格式 PDF
• 正文语种 eng
• 中图分类 心脏、血管（循环系）疾病;
• 关键词