Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families

著录项

• 来源
  《Clinical Genetics: An International Journal of Genetics in Medicine》 |2016年第5期|共2页
• 作者

  Major T.; Gindele R.; Szabo Z.; Alef T.; Thiele B.; Bora L.; Kis Z.; Bardossy P.; Racz T.; Havacs I.; Bereczky Z.;

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• 作者单位

  Markhot Ferenc Hosp Dept Otorhinolaryngol Eger Hungary;

  Univ Debrecen Div Clin Lab Sci Dept Lab Med Debrecen Hungary;

  Univ Debrecen Div Clin Lab Sci Dept Lab Med Debrecen Hungary;

  Inst Immunol &

  Genet Med Diagnost Lab Kaiserslautern Germany;

  Inst Immunol &

  Genet Med Diagnost Lab Kaiserslautern Germany;

  Markhot Ferenc Hosp Dept Radiol Eger Hungary;

  Markhot Ferenc Hosp Dept Radiol Eger Hungary;

  Hungarian Herald &

  Geneal Soc Budapest Hungary;

  Markhot Ferenc Hosp Dept Otorhinolaryngol Eger Hungary;

  Markhot Ferenc Hosp Dept Otorhinolaryngol Eger Hungary;

  Univ Debrecen Div Clin Lab Sci Dept Lab Med Debrecen Hungary;

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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