Whole exome sequencing discloses heterozygous variants in the DNAJC 21 DNAJC DNAJC 21 and EFL 1 EFL EFL 1 genes but not in SRP 54 SRP SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS SBDS SBDS mutations

著录项

• 来源
  《British Journal of Haematology》 |2019年第3期|共4页
• 作者

  Morini Jacopo; Nacci Lucia; Babini Gabriele; Cesaro Simone; Valli Roberto; Ottolenghi Andrea; Nicolis Elena; Pintani Emily; Maserati Emanuela; Cipolli Marco; Danesino Cesare; Scotti Claudia; Minelli Antonella;

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• 作者单位

  Department of PhysicsUniversity of PaviaPavia Italy;

  Department of Molecular MedicineUniversity of PaviaPavia Italy;

  Department of PhysicsUniversity of PaviaPavia Italy;

  Oncoematologia PediatricaAzienda Ospedaliera Universitaria IntegrataVerona Italy;

  Department of Medicine and SurgeryUniversity of InsubriaVarese Italy;

  Department of PhysicsUniversity of PaviaPavia Italy;

  Laboratory of Transfusion MedicineUniversity Hospital of VeronaVerona Italy;

  Laboratory of Transfusion MedicineUniversity Hospital of VeronaVerona Italy;

  Department of Medicine and SurgeryUniversity of InsubriaVarese Italy;

  Cystic Fibrosis Regional Centre Ospedali RiunitiAncona Italy;

  Department of Molecular MedicineUniversity of PaviaPavia Italy;

  Department of Molecular MedicineUniversity of PaviaPavia Italy;

  Department of Molecular MedicineUniversity of PaviaPavia Italy;

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• 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

  Shwachman‐Diamond syndrome; whole exome sequencing; computational biology; single nucleotide polymorphisms; bone marrow diseases;

  机译：SHWachman-Diamond综合征;整个Exome测序;计算生物学;单核苷酸多态性;骨髓疾病;