Novel ADA 2 ADA ADA 2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 ( DADA DADA 2)

著录项

• 来源
  《British Journal of Haematology》 |2019年第3期|共5页
• 作者

  Ghurye Rohit R.; Sundaram Kruthika; Smith Frances; Clark Barnaby; Simpson Michael A.; Fairbanks Lynette; Adhya Zoe; Mufti Ghulam J.; Marsh Judith C. W.; Ibrahim Mohammad A. A.;

  展开▼
• 作者单位

  Department of Immunological MedicineKing's College LondonLondon UK;

  Department of Immunological MedicineKing's College LondonLondon UK;

  Department of Immunological MedicineKing's College LondonLondon UK;

  Department of Immunological MedicineKing's College LondonLondon UK;

  Division of Genetics and Molecular MedicineKing's College LondonLondon UK;

  ViapathSt Thomas's HospitalLondon UK;

  Department of Immunological MedicineKing's College LondonLondon UK;

  Department of Haematological MedicineKing's College LondonLondon UK;

  Department of Haematological MedicineKing's College LondonLondon UK;

  Department of Immunological MedicineKing's College LondonLondon UK;

  展开▼
• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 血液及淋巴系疾病;
• 关键词

  deficiency of adenosine deaminase 2 ( DADA 2); ADA 2; c.1057Tgt; C; p.(Tyr353His); neutropenia; bone marrow hypocellularity;

  机译：腺苷deaminase 2（DADA 2）的缺乏;ADA 2;C.1057T＆GT;C;p。（TYR353HIS）;中性细胞病;骨髓假细胞;